Parasomnia = undesirable physical event that occurs during entry to sleep, within sleep, or during arousal from sleep.
The other common childhood parasomnias are sleepwalking and nightmares.

The question stem descries night terrors, a common type of parasomnia.

Night terrors occur during deep, slow wave sleep, which constitutes a significant percentage of the first 1/3 of the night. They are defined as sudden episodes of terror during sleep, usually accompanied by autonomic nervous system activation and crying/screaming as well as other behavioural manifestations of intense fear. They are often very distressing to the observer. The International Classification of Sleep Disorders also requires for diagnosis that 1 or more of 4 associated features exists: difficulty arousing child, confusion/ disorientation if awakened from episode, amnesia for episode the next morning, or potentially dangerous behaviours.

Going through the answers:
-Night terrors are usually seen between 4 and 12 years, and prevalence declines by age 15. Most children stop having episodes by onset of puberty, with age-related changes in sleep architecture (dramatic decrease in slow-wave sleep). Thus, while episodes can resolve at any time, it is fair to give parents the expectation that they may continue for years.

- Benzodiazepines can be considered a form of treatment to reduce frequency of episodes, but they should only be used in rare cases where episodes are frequent, or severe/violent with risk of injury (either hurting self or someone trying to calm them). They act by suppressing slow-wave sleep, and short-acting medications are preferred as that is often all that is needed to get them through the first few hours of sleep without sedating/amnestic effects lingering into the next morning. First, however, reassurance and education should be provided. Another strategy often employed initially is “scheduled awakening” – parents employ knowledge of usual timing of the night terrors, and wake child 15-30 mins before the episodes, usually requiring 2-4 weeks for episodes to stop occurring and repeated for recurrences.

-It is in fact, usual to have a family history in one or both parents, suggesting genetics may play a role. Some studies suggest up to 96% children with sleep terrors have another family member who has experienced a parasomnia.

-Sometimes parasmonias are made worse by another underlying sleep disorder, as any sleep disorder that leads to recurrent arousals and shifts in sleep stages can trigger night terrors, which occur more commonly during sleep transitions. Thus, questions on history should rule in or out obstructive sleep apnea, restless leg syndrome/periodic limb movement disorder, and seizures (frontal lobe or nocturnal complex partial). Seizures in particular, can both be a trigger for sleep disruptions and increased parasmonias, as well as mistaken for parasomnias. However, these are far less common than night terrors, so polysomnography should be arranged if there are any concerning symptoms of sleep disorders, or there is suspicion of seizures on the basis of atypical, stereotyped, or severe parasmonias, abnormal neuro-developmental assessment, excessive daytime somnolence, etc.

- Last, night terrors are not associated with psychopathology. They occur in deep sleep, and despite the distressing appearance, are often associated with amnesia – so the parents are far more affected by it than the child. There is an association with stress, but only because stressful times are more often associated with sleep-deprivation. Sleep-deprivation is problematic because on subsequent normal nights, the child’s body demands more deep NREM sleep where he/she is more likely to have sleep terrors. In fact, it is for this reason that parents are often advised not to discuss the events with the children, as it can make them anxious about what they may be doing when they are asleep, leading to difficulties falling asleep and sleep-deprivation. Similarly, talking to a developmental pediatrician or psychiatrist/ psychologist will be of no benefit and may further increase anxiety. In this child’s case, she may have just started school, but unless a history is obtained that her sleep duration has decreased, it cannot be assumed that she will be better within a few months as she is not sleep-deprived to begin with.

As many as 90% cases have no underlying medical diagnosis found, with reports in the literature varying usually between 80-90%. In one study back in 1978 that is still referenced today (Sills RH. Am J Dis Child 1978; 132:967-969), 18% of hospitalized patients for FTT had an underlying organic cause found after 2,607 lab tests were undertaken. Interestingly, the only lab tests that were abnormal (36/2,607) were found in the group of patients where a diagnosis was found, and in all of these patients, the diagnosis was strongly suggested initially by history and physical examination!

I put the term "Non-organic" in quotation marks because the classic dichotomy of FTT into organic and non-organic causes is becoming less favourable. For one, there is often more than one cause found - for instance, a child with FTT due to gastro-esophageal reflux may develop aversive behaviours around feeding because of the previously painful experience, even after treatment with proton-pump inhibitors.

Second, nonorganic FTT has previously had some negative connotations with it, often synonymous with "psychosocial" FTT, and implying the child is intrinsically healthy and that the FTT was due to environmental issues, namely parental failure. This view of FTT as a syndrome is no longer favoured, as FTT should be thought of as a sign that the child's nutrition is inadequate for optimal growth and development, which is the ultimate concern of all cases of FTT. It should also be thought of as a sign that the patient has a 10-20% chance of an underlying medical pathology.

The DDx for FTT is now best thought of as an interference in the process of food in, digested/absorbed, and being utilized for metabolic processes.

1. Inadequate Intake
a) Not enough offered: Lack of money/food, Breast feeding – poor milk production, Poor knowledge of child’s needs (Poor transition to solid food, Avoidance of high-calorie foods, Formula dilution, Excessive juice), Neglect/abuse, Environmental (Disturbed parent-infant relationship, Poor temperamental fit, Maternal stress)
b) Oromotor Dysphagia (suck/swallow dysfunction): Neuromotor e.g. CNS, neuromuscular disease versus Structural e.g. Cleft lip/palate, enlarged tonsils, etc
c) Can’t keep down (reflux/vomit): GERD w/ FTT, Emesis (Anatomic obstruction, Increased ICP, recurrent infections (CNS, or GI, any kind), medications, endocrine disturbances or other chronic disease
d) Don’t want to eat: Anorexia associated with chronic disease, Behavioural feeding problem (Altered oromotor sensitivity, Pain and conditioned aversion, and rarely, infantile anorexia)

2. Decreased digestion/malabsorption
a) Maldigestion: Pancreatic insufficiency (CF, Schwachmann-Diamond, pancreatitis), Liver disease
b) Malabsorption: Decreased length of GIT (NEC and other causes of short gut), Damage to villi (IBD, Celiac, food protein-induced enteropathy/allergy, recurrent infection/post-infectious damage) or
decreased brush-border enzymes (e.g. lactose intolerance)

3. Increased energy reqs/inappropriate nutrient use (chronic/recurrent dz)
a) Cardiac – CHF
b) Respiratory – CF, bronchopulmonary dysplasia, severe asthma
c) Renal – Renal failure, renal osteodystrophy, renal tubular acidosis
d) Endo – hyper- or hypo-thyroidism, diabetes, adrenal insufficiency, insulin resistance (associated with IUGR)
e) Metabolic – inborn errors of metabolism, storage diseases
f) Infections/Immunodeficiency – HIV, UTI, pneumonia, AOM, etc
g) Inflammatory – cancer, systemic disease (JIA, SLE, IBD)

4. Decreased growth potential (associated with decreased HC/Length as well)
a) Maternal infections/toxins: e.g. FAS, TORCH infections
b) Syndromes, chromosomal abnormalities (e.g. Russell-Silver, Turner, Down)

Of course, this list is far from exhaustive, but history focused on each of these areas should clue the clinician into which area to pursue further on examination and necessary investigations.

The clinical picture described would be classic for osteosarcoma, the most common malignant neoplasm of bone that presents more commonly in males, with peak incidence in the second decade coinciding with average age of growth spurt (earlier peak in females). Osteosarcoma typically affects long bones, and arises most often in the metaphysis. Most cases occur around the knee (with distal femur >proximal tibia > proximal humerus being by far and away the most common sites). The history in this case is also fairly classic for osteosarcoma, with note that pathological fracture is a mode of presentation in 10-15% of cases, and systemic symptoms being rare. Physical examination may reveal a painful soft tissue mass as described, with a reactive painful effusion and limited ROM as possible consequences as well. Lab studies and plain X-ray findings as outlined in the history are also classic for osteosarcoma.

In osteosarcoma, 80% present with only localized tumor at presentation. 20%, however, have pulmonary metastases at diagnosis. After the lungs (90% of all bone metastases), “skip lesions” or distant bone sites are the next most common sites of metastases (10%). Similarly, of the approximately 30-40% of patients with osteosarcoma who develop recurrences, 80% of these are in the lung and 15% are in distant bone sites.

Micrognathia - the mandible is small

Retrognathia - mandible size is essentially normal but is retrognathic (posterior-placed) because the cranial base angle is larger than normal

Cleft palate - defect in palate (primary or secondary)

Glossoptosis - tongue is not actually larger than normal, but because of the micro/retrognathia, is large for the airway and therefore causes varying degrees of obstruction

Interestingly, when Dr. Pierre Robin first described the sequence, his triad consisted of: micrognathia, glossoptosis, and respiratory distress. Only later was cleft palate added to the list of anomalies.

Many now state that the three essential elements of Robin sequence are:
(1) micrognathia or retrognathia, (2) Cleft palate, and (3) Glossoptosis, often accompanied by airway obstruction.

The case definition of Robin sequence thus still varies. That being said, all definitions seem to acknowledge the fact that virtually all patients have mandibular deficiency of some form, whereas cleft palate and/or airway obstruction are highly variable in severity and may be absent in some cases.

Robin sequence is a series of anomalies all initiated by one developmental problem, which is considered to be the mandibular deficiency. Restricted growth/posterior positioning is thought to result in impaction of the tongue between the palatal shelves, preventing their elevation and eventual fusion. It also results in glossoptosis relative to small/retrognathic mandible, with airway obstruction caused by the tendency of the tongue to retract with velum against posterior pharyngeal wall, especially when supine and with neck flexion.

The mandibular deficiency results from deformation, malformation, or connective tissue dysplasia.

Isolated cases of Robin Sequence (40-75% of all causes) are thought to be primarily deformational - from intrauterine forces acting on the mandible, which restrict its growth. Some deformational cases of Robin sequence have been associated with oligohydramnios, but this is not a prerequisite. In most such cases, mandibular catch-up growth is expected after birth once intrauterine forces are removed (unless severe).

Cases of malformation are considered mostly syndromic, such as that seen in 22q11.2 microdeletion (15% of all syndromic causes) and Treacher-collins syndrome. Connective tissue dysplasia is also often syndromic, and Stickler syndrome is an example - comprising 25% of all syndromic cases of Robin sequence. Syndromic cases are often referred to as "Robin complex", due to the fact that the Robin sequence is often only a part of a complex of anomalies caused by a chromosomal aberration.

Up to 1/3 of all cases of Robin sequence do not have an identified specific syndrome but are associated with multiple other anomalies.

Other than the obvious facial anomalies and associated airway obstruction, one of the other ways such infants may present is with feeding difficulties - but not considered essential feature.

Comment on this question...
Gary, this question is correct, but probably not at the level of a student. This would not be considered core knowledge; definitely core for a resident.

Before I get to the answer, a quick word about definitions of sepsis and septic shock, which this case is meant to illustrate.

SIRS (systemic inflammatory response syndrome) is defined as an inflammatory response to various insults, most commonly being infection, trauma, thermal injury, metabolic-endocrine, rheumatologic, allergic, surgical intra-abdominal, etc. International Consensus definitions in pediatrics require 2/4 criteria, with 1 having been abnormal temp or WBC counts: (1) Core temp >38.5 or <36, (2) Tachycardia, or bradycardia in case of <1 y/o, that is unexplained otherwise (3) Tachypnea or need for acute mechanical ventilation, (4) Elevated or Depressed WBC or >10% immature neutrophils

When SIRS is associated with a proven or suspected infection, this is called sepsis.

When sepsis is associated with organ dysfunction (shock, ARDS, or involvement of 2 or more of respiratory, renal, hepatic, hematologic, or neurologic), this is termed "severe sepsis."

Septic shock is cardiovascular organ dysfunction in association with sepis, and in virtually all cases, mainfests as tachycardia and signs of inadequate perfusion. It can manifest in a number of ways, such as: Low SBP (often despite >40cc/kg of isotonic fluid bolus), need for vasoactive medications to maintian BP, high arterial lactate, metabolic acidosis, oliguria, prolonged capillary refill time, altered mental status, and core-peripheral temp gap of >3oC.

This scenario was designed to illustrate an important point regarding septic shock in pediatrics. Septic shock has two primary clinical presentations or ways of manifesting on examination - "cold" shock, or "warm" shock.

In the adult world, we are commonly taught about septic shock as a type of "warm" shock, as it is how most adults and some children will present. "Warm" shock is a form of distributive shock characterized by widespread systemic vasodilation with low SVR (systemic vascular resistance), and often high CO (cardiac output). Consequently, patients present with tachycardia, plethora, warm extremities, brisk capillary refill, and a wide pulse pressure leading to bounding pulses on exam.

However, septic shock is no longer though of as a purely distributive shock, because septic shock can also be associated with absolute or relative hypovolemia, myocardial dysfunction, and various other factors leading to poor perfusion in addition to decreased vascular tone. This is especially true in pediatrics as most septic children present in "cold" shock, with low CO and high SVR. They too present with tachycardia, but because of the high SVR, have mottled skin, cool extremities, prolonged capillary refill, and narrow pulse pressure with weak peripheral pulses. This presentation is contrary to adult medicine, and should thus be considered when assessing a pediatric patient with suspected septic shock.

Also, it should be noted that the SVR and CO in septic shock may change in the same patient over time, even during the same illness, and will thus impact management strategies (e.g. use of vasoactive medications). Thus, a patient in this state requires frequent re-assessment during the ongoing management of shock.

Microbiology of Periorbital and Orbital Cellulitis: Staphylococcus aureus/epidermidis, and S pyogenes (GAS) account for 75% of pediatric periorbital infections at present. Similarly, Staphylococcus and Streptococcus are the two most common organisms responsible for orbital cellulitis. Community-acquired MRSA has become increasingly prevalent, and must be considered in cases where clinical improvement does not occur on empiric antibiotic therapy. Haemophilus influenza type b was historically associated most commonly with orbital cellulitis and hematogenously spread periorbital cellulitis, but has been on the decline since the introduction of the Hib conjugate vaccine. S. Pneumo infections are similarly on the decline. Polymicrobial infections also can occur in odontogenic disease.

Investigations: Routine blood cultures should not be done for patients unless there is evidence of bacteremia or systemic illness. One should attempt to obtain swabs for culture and sensitivity of pathogens involved. CRP, ESR, WBC being high may suggest orbital cellulitis over periorbital, but should never be used in isolation to make a diagnosis. A FSWU should be done if the patient appears toxic or there is evidence of neurologic involvement.

CT scanning is ideal for identifying extent of orbital inflammation. Indications for CT scanning include: (1) eyelid edema that makes complete examination impossible, (2) CNS involvement, (3) deteriorating visual acuity/color vision, gross proptosis or ophthalmoplegia, (4) clinical deterioration or no improvement after 48 hours of adequate treatment

Reasons for inpatient management: (1) evidence of orbital cellulitis, (2) can’t fully examine eye, (3) systemically ill or evidence of CNS involvement, (4) need for parenteral antibiotics

Oral versus Parenteral Antibiotics: All patients with orbital cellulitis should be admitted for IV antibiotics, until significant improvement can be achieved. With respect to periorbital cellulitis, there is no evidence that IV antibiotics are better than oral antibiotics for the management of simple periorbital cellulitis, so oral is preferable in these cases. In cases of periorbital cellulitis as a consequence of hematogenous seeding, patients should be admitted and given parenteral antibiotics.

With these pearls in mind, let’s examine the 5 scenarios:

Patient 1: This is a description of a simple case of periorbital cellulitis following infected insect bite. For such cases associated with superficial breaks in skin (impetigo, eczema, bite, abrasion), most common pathogens are Staph aureus and Strep pyogenes. Empiric management with oral coverage for these organisms should be started, usually in the form of cloxacillin or a first-generation cephalosporin. If MRSA is suspected, clindamycin or TMP-SMX should be started. Follow-up should be arranged, as clinical improvement should be evident within 48 hours. Duration of therapy is usually 7-10 days.

Patient 2: This is a description of a case of periorbital cellulitis, in this case secondary to extension of infection from an external stye (hordeolum), which is an infection of the sebaceous/sweat glands at the base of the eyelashes and can be seen as small red bumps localized on the eyelid. The most common pathogen is Staph aureus. However, as the cellulitis has not improved after 48 hours of cephalexin, complications or resistant organisms must be considered, particularly CA-MRSA. As there is no evidence to suggest any complications, it would still be reasonable at this point to continue oral antibiotics, this time with MRSA coverage, with follow-up in 24-48 hours for improvement. Warm compresses may also be useful in hastening drainage.

Patient 3: This is a case of orbital cellulitis as there is evidence of increased intra-orbital pressure. The likely source in this case is rhinosinusitis, in which case the most likely pathogens are S pneumoniae, H influenzae, and Moraxella catarrhalis. In this setting, the patient should be CT scanned to determine the extent of orbital involvement and rule out complications such as intracranial infection or cavernous sinus thrombosis. A FSWU should be considered. Inpatient management, ophthalmology assessment, and initial parenteral antibiotic therapy is all warranted. IV antibiotics should have empiric coverage for both organisms associated with rhinosinusitis, as well as anti-staphylococcal and anti-streptococcal coverage with strong consideration of MRSA coverage. A reasonable regimen here would be IV 2nd/3rd generation cephalosporin +/- clindaymycin or vancomycin. Once significant improvement has been made, a switch to oral antibiotics can be made, with total 10-14 days of coverage.

Patient 4: This is a case of dental abscess with spread and periorbital cellulitis as a result. Pathogenic organisms in this case may be varied, including mixed aerobic and anaerobic bacteria. Management in this setting is two-fold – evaluation by a dentist with abscess drainage and possible tooth extraction, and antibiotic coverage (oral or more likely parenteral) with clindamycin or amoxicillin-clavulanate.

Patient 5: In any patient, particularly those younger than 3, that presents with rapidly progressive eyelid swelling and systemic signs of illness preceded by a viral URTI, hematogenous spread with periorbital seeding should be strongly considered. Pathogens include H influenzae, S pneumoniae, S pyogenes and S aureus. This requires inpatient management with IV antibiotic coverage of both gram +ve and gram –ve organisms. Thus, management would be similar to that of case 3, with a reasonable regimen of IV 2nd/3rd generation cephalosporin +/- clindamycin or vancomycin if MRSA suspected. Once significant improvement has been made, a switch to oral antibiotics can be made, with total 10-14 days of coverage. A FSWU should be strongly considered in this case. CT may also be considered.

Acute leukemia occurs 14 times more frequently in children with T21 than in the general population, which works out to a risk of leukemia of 1-1.5%.

In the general population, approximately 80% of all leukemias in children are ALL, whereas 11-17% are AML. This ratio of ALL to AML is actually similar in patients with T21 to that of the general population.

However, T21 patients with AML often develop a specific subtype of AML known as acute megakaryoblastic leukemia (aka AML-M7 or AMKL). The incidence of AMKL is approximately 500 times greater in children with T21 than in the general population. AMKL often develops by 4 years of life, and when it presents in the first 2 years of life, it is invariably associated with mutations in GATA-1. GATA-1 is a gene on the X chromosome that encodes a transcription factor that controls megakaryopoiesis, and has been identified in blasts of patients with trisomy 21 and AMKL. This information suggests that AMKL may result from a gene mutation, which may be acquired in utero and serve as a biomarker for an increased risk of transient leukemia and subsequent AMKL.

Interestingly, in earlier onset AML, patients with T21 have much better outcomes (>80% long-term survival rates) and often require less intensive therapy than children without T21 (<70%). In contrast, myeloid leukemias in people with T21 > 4 years are usually negative for GATA-1 mutations, and their prognosis does not differ from AML in patients without T21.

In patients with T21, ~10-20% of newborns develop a transient leukemia or myeloproliferative syndrome. It is often characterized by blasts in the peripheral blood, with hemoglobin, platelet, and neutrophil counts typically being normal. It resolves spontaneoously in days to weeks and does not require treatment. However, it is important and must be screened for in all infants with T21, because 20-30% of patients with transient leukemia later develop AMKL. GATA-1 mutations are often identified in such patients.

The risk of developing acute lymphoblastic leukemia (ALL) is approximately 10 to 20 times higher in T21 children than in the general population. The clinical presentation and epidemiology of ALL, as well as the expected outcome of treatment is the same in patients with T21 than in other children.

This is the classic description for oral allergy syndrome, aka food pollen syndrome.

It is a common type of food allergy. Basically, what happens is that certain foods contain proteins that are similar to aeroallergens such as ragweed and birch pollen. Those individuals who have allergies to these allergens may thus develop cross-reactivity to similar proteins contained in fresh fruits or vegetables. Not surprisingly, 30-40% of children with allergic rhinitis have oral allergy syndrome. It is considered an IgE-mediated food hypersensitivity reaction.

Examples of cross-reacting foods:
Ragweed - watermelon, cantaloupe, honeydew, banana
Birch - apple, cherry, carrot, celery, potato, kiwi, hazel nuts

Interestingly, as these food proteins are heat labile, cooking such foods may negate or decrease their allergenic properties.

Symptoms are explained by local mast cell activation and are usually confined to the oropharynx where the food proteins contact the oral mucosa - tingling, pruritis, and occasionally angioedema result. Symptoms begin within few minutes of contact and are short-lived. Symptoms are typically mild, but severe reactions have been reported, including anaphylaxis in a very small percentage of cases (<2%). GI symptoms are reported in ~10%.

Skin testing is often confirmatory, having sensitivity and negative predictive values in the range of 90% each. It is not necessary unless the history is unclear and testing desired, or when systemic symptoms are reported. It may be done with commercial food extracts, or with fresh food (prick device first pressed into food, then into skin).

Counseling is as follows:
Decision to avoid causative foods should be made based on severity of reaction and patient preference (e.g. in this case, patient may avoid based on unpleasant symptoms, but her symptoms are mild and not of major concern).
Even though other related fruits and vegetable may contain proteins with the potential for cross-reactivity, they need not be avoided if the patient has not had a previous reaction to them, as OAS is relatively specific to certain foods in each individual.

The child presents with history and physical findings best in keeping with an acoustic neuroma. It is otherwise known as a vestibular schwannoma, arising from the vestibular portion of cranial nerve VIII. It is a slow growing tumor, and as it grows, it can compress/damage other cranial nerves in the cerebellopontine angle, e.g. CN V/VII, and eventually compress the brainstem and cerebellum.

Presentation is based on cranial nerve involvement. Involvement of the cochlear component of CN VIII usually leads to complaints of tinnitus, and hearing loss. Because of the chronicity in development of hearing loss due to slow tumor growth, some people, especially children, may be unaware of this hearing loss. Involvement of the vestibular component leads to sensations of unsteadiness while walking, with severity that fluctuates over time and is generally progressive. An important thing to note here is that true central vertigo is uncommon, because slow-growing acoustic neuromas cause gradual asymmetry in vestibular function, and the central vestibular system often compensates for this gradual loss of input from one side.

Rarely, CN V (facial numbness, hypesthesia, pain) and CN VII (facial paresis, taste disturbances) can be involved leading to symptoms of corresponding nerve dysfunction. These are usually late symptoms, however.

On physical examination, hearing tests are typically abnormal. The Rinne and Weber tests should be used to characterize the location and type of hearing loss. As well, a full cranial nerve exam should be done although usually normal. Romberg and other common office balance tests are also typically normal.

For the Rinne test – a 512 Hz tuning fork is struck, then held to the mastoid process and once the patient can no longer hear the sound, then placed near the ear. Normally (also if sensorineural hearing loss), the person should hear the sound after the fork is placed by the ear ie. Air conduction > Bone conduction. In the case of conductive hearing loss, the person will not hear the sound ie. BC > AC.

For the Weber test – a 512 Hz tuning fork is struck, and placed on the patient’s midline forehead. If there is unilateral conductive hearing loss, the patient will lateralize (hear the sound loudest) to the affected ear’s side. If there is unilateral sensorineural hearing loss (SNHL), the patient will lateralize to the opposite side.

In this example, the child has AC>BC and lateralizes to the right side, thus likely exhibits Left SNHL.

Audiometry is the best initial screening laboratory test for the diagnosis of vestibular schwannoma; 5 percent of patients will have a normal test. Results typically show asymmetric sensorineural hearing loss.

With a history, physical, and audiometry that suggest asymmetric SNHL, your working diagnosis should be “acoustic neuroma until proven otherwise.” The differential diagnosis includes (cerebellopontine angle) meningioma, which may present similarly, and accounts for 4-10% of such cases of unilateral SNHL, but is obviously lower on the DDx. So in this case, Left acoustic neuroma is the most likely diagnosis, and should be confirmed by MRI with gadolinium contrast.

Acoustic neuromas are rare in children, except for those with Neurofibromatosis type 2.

This is a rather obscure question of me to ask, as NF-2 is far less common than NF-1 with a prevalence of 1/50 000 (10% of all NF cases).
Its diagnostic criteria are fulfillment of 1 or 2:
(1) bilateral acoustic neuromas, or
(2)(a)1st degree relative with NF-2 PLUS either (b) or (c) -(b)Unilateral acoustic neuroma, or (c)Any 2 of: meningioma, glioma, neurofibroma, schwannoma, or juvenile posterior subcapsular lenticular opacities.
The classic skin findings seen in NF-1 are far less commonly seen in NF-2.

Neurofibromatosis type 1, on the other hand, has many associations, but in terms of neurological neoplasms, the most common ones found i such patients are neurofibromas, and astrocytomas (especially optic gliomas).

As Neurofibromatosis is an autosomal dominant disorder, and because in cases of unilateral acoustic neuromas, a family history in a 1st degree relative in necessary to make the diagnosis of NF-2, this question must be asked after the diagnosis is made, especially in children. It should be noted, however, that most cases of NF-2 are sporadic mutations, and thus a family history will not have any yield.

The big clinical distinction here that must be made is that between positional/deformational plagiocephaly and craniosynostosis.

DEFORMATIONAL PLAGIOCEPHALY occurs in ~20% of infants during the first 4 months, and is by far the most common head shape abnormality. The neonatal skull is plastic and calvarial deformation can result pre- or post-natally.
Prenatal deformation is often associated with in utero positioning forces, and is associated with first-born males, multiple births, advanced maternal age. Postnatal deformation is mostly associated with head positional preferences (feeding/sleeping/supine) that can be exacerbated in association with torticollis, hypotonia and motor delay, as well as insufficient tummy time.

Most common forms are
(1) occipito-parietal (right or left) – due to differential molding/positional preferences
(2) symmetric occipital (brachycephaly) – excessive time with occiput flat against surface

CRANIOSYNOSTOSIS (CS), on the other hand, is due to the premature closure of one or more of the cranial sutures (normal closure of sutures: Metopic 3-9 mos, Sagittal/Coronal/Lambdoid: 22-39 mos). Prevalence is much less common @ ~1/1800 births.

Consequently, restrictions in growth occur perpendicular to the fused suture, while compensatory skull growth occurs parallel to the affected suture (examples below)
CS may be associated with extracranial associations (syndromic) or occur in isolation, and pathognesis is believed to be either genetic or multifactorial.

Common types of CS
(1) Scaphocephaly (boat-shape) with Sagittal suture synostosis
MOST COMMON (50% of cases)
Features:
Elongated (AP) skull shape
Small BPD
Relative Frontal prominence
+/- blunted AF

(2)“Plagiocephaly” (twisted)
(a) Coronal suture synostosis
Ipsilateral:
Flattened frontal bone
Slight occipital flattening
Prominence of eye (b/c of flat frontal bone)
Antero-superior ear deviation
Contralateral:
Forehead prominent
Nasal tip/chin twisted AWAY
AF blunted, deviates AWAY

(b) Lambdoid suture synostosis
Ipsilateral:
Flatting of occiput
Mastoid bulge
Inferior ear displacement
Skull base downslanting
Contalateral:
Slight prominence of forehead

(3)Trigonencephaly(triangular) associated with Metopic Suture synostosis
Features:
Triangular forehead
Decreased Bi-Frontal Diameter
Supraorbital rims visible from birds-eye view
AF maybe posterior displaced

(4)Brachycephaly (short AP length) Bilateral coronal CS

While positional plagiocephaly is of no clinical significance, Craniosynostosis may restrict skull growth and/or result in intracranial hypertension.

The biggest clinical dilemma is differentiating lambdoid suture synostosis from deformational plagiocephaly (contrasted below), which both feature flat occiput.

With deformational plagiocephaly, it can be likened to pushing on a rectangle and forming a parallelogram, with flattened ipsilateral occiput and consequently, anterior ear displacement and prominent forehead ipsilaterally. There is NO supero-inferior displacement of structures – resulting in level skull base/ears.

With lambdoid suture synostosis, remember although restricted growth occurs perpendicular to the suture, increased growth occurs parallel to the lambdoid suture, thus if you think of it conceptually in a bird’s eye view, more growth occurs ipsialat/posteriorly (resulting in ipsilateral mastoid bulge), and contalat/anteriorly (contralateral forehead prominence). Also, remember the lambdoid suture also runs inferiorly, and so closure also causes sup-inf displacement

Lambdoid suture synostosis:
Flatting of ipislateral occiput
Slight prominence of contralateral forehead
Mastoid bulge ipsilateral
Inferior displacement of ear ipsilat
Downslanting skull base ipsilat

Deformational plagiocephaly (Occipitoparietal):
Flattening of ipsilateral occiput
Slight prominence of ipsilateral forehead
No mastoid bulge
Slight anterior displacement of ear ipsilat
Skull base level

SO, GOING THROUGH THE ANSWERS:
Slight prominence of right forehead – seen in right positional plagiocephaly.

Bulging of right mastoid, Slight prominence of left forehead, downslanting skull base to right with inferiorly displaced ear – all seen in right lambdoid suture synostosis
Tip of nose/chin deviated to the left – seen in right coronal suture synostosis
Tip of nose/chin deviated to the right - seen in left coronal suture synostosis

NOTE ON TREATMENT

If features suggest a craniosynostosis – one should refer to specialist craniofacial center by 2-4 mos of age, and discuss with a specialist the need for CT or U/S to assess patency of cranial sutures.
Treatment/assessment is done by a multidisciplinary team.
Patients should be evaluated as soon as possible, preferably within the first few weeks after birth. However, referral is appropriate at any age
Surgical repair of craniosynostosis is performed to prevent or urgently treat intracranial hypertension, or to improve socialization by normalizing the appearance of the face and head. This procedure involves releasing growth-arrested sutures (preferred time for surgical intervention is 8 to 12 months)

Treatment for positional plagiocephaly in contrast usually can be done conservatively, with advice as follows:
- Supervised tummy time
- Vary head positions during feeds, supine time
- DO NOT try side-lying or use infant sleep position devices to attempt to reduce plagiocephaly (risky in terms of SIDS, etc)