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28 C.

There were 2 questions about Tay-Sachs in our Pediatric Exam.

Children who have Tay-Sachs disease are characterized by progressive developmental deterioration; physical signs include macular cherry-red spots and exquisite and characteristic sensitivity to noise.

Diagnosis of this disorder can be confirmed biochemically by the absence of hexosaminidase A activity in WBCs.

The other GM2 gangliosidosis, Sandhoff disease, results from a deficiency of both hexosaminidase A and B.

Tay-Sachs disease is inherited as an autosomal recessive trait; frequently, affected children are of Eastern European Jewish ancestry.

The other disorders listed in the question are associated with enzyme deficiencies as follows:
Niemann-Pick disease (type A), sphingomyelinase, which results in a normal-appearing child at birth who then develops hepatosplenomegaly, lymphadenopathy, and psychomotor retardation in the first 6 months, followed by regression after that;

Infantile Gaucher disease (type II Gaucher), glucosidase, which presents in infancy with increased tone, strabismus, organomegaly, failure to thrive, strider, and several years of psychomotor regression before death;

Krabbe disease (globoid cell leukodystrophy), galactocerebroside-galactosidase, which presents early in infancy with irritability, seizures, hypertonia, and optic atrophy, with severe delay and death usually occurring in the first 3 years of life;

Fabry disease, alpha-galactosidase, which presents in childhood with angiokeratomas in the bathing trunk area, ultimately resulting in severe pain episodes.
36 A.

Bacterial tracheitis is an uncommon but severe and life-threatening sequela of viral laryngotracheobronchitis. The typical story is that presented in the case, with several days of viral upper respiratory symptoms, followed by an acute elevation of temperature and an increase in respiratory distress. Inspiratory stridor is typical in croup; the biphasic stridor and high fever in this patient should be a clue to consider alternative diagnoses. Children may also present acutely and without the initial viral symptoms.

The differential must include epiglottitis; the lack of drooling and dysphagia (and the rarity of epiglottitis since the introduction of the Haemophilus influenza B vaccine) help make this a case of tracheitis.

Management for tracheitis includes establishing an airway with endotracheal intubation and IV antibiotics. Special attention is focused on preservation of the airway, as even intubated children with tracheitis can have secretions thick and copious enough to occlude the airway.

Oral antibiotics and outpatient follow-up for a patient with respiratory distress and toxic appearance are never appropriate.

Inhaled epinephrine and oral steroids as well as observation in a cool mist tent suggest a diagnosis of croup, a disease that presents without high fever but with inspiratory stridor a few days after an upper respiratory infection. In the case presentation, the fever and toxic appearance differentiate this condition from viral croup.

Intravenous methylprednisolone is a component of treatment for asthma, a diagnosis unlikely in a patient with high fever as outlined.
37 A.

Osgood-Schlatter disease is a very common problem most often seen in athletically active adolescents. This disorder is characterized by ossification in the distal patellar tendon at the point of its insertion onto the tibial apophysis. This disorder is thought to result from mechanical stress on the tendinous insertional area. X-ray views of the involved knee show a characteristic irregularity in the insertional area and often show separately discrete ossicles within the tendon itself. The disease will present with severe local pain and exquisite tenderness in the area of the tibial tubercle. In almost every case, symptoms do regress after skeletal maturity or the discontinuance of active athletic participation. In rare cases, persistive symptoms into adulthood can occur.

Legg-Calve-Perthes disease, also known as coxa plana, is a condition of the pediatric hip characterized by a flattened, misshapen femoral head. The etiology of the problem is related to osteonecrosis of the proximal femoral epiphysis and is thought to result from vascular compromise. Legg-Calve-Perthes disease generally presents in children, usually males, between the ages of 4 and 8 years old. Presenting symptoms generally include groin or knee pain, decreased hip range of motion, and a limp.

A slipped capital femoral epiphysis (SCFE) is an acquired disorder of the epiphysis thought to be associated with weakness in the perichondrial ring of the growth plate. Children within the ages of 10 to 16 years old are noted to have the displacement of the epiphysis on the femoral neck. In most cases, there is no identifiable trauma history. It is associated with African American heritage and obesity and is somewhat more common in boys than in girls. Tibial torsion is the most common cause of an intoeing gait. This is most frequently noted in 1- and 2-year-old children. This is often bilateral. Although occasionally intoeing can be marked, pediatric tibial torsion will completely resolve without treatment in almost every case.