Pediatrics Recalls By Subject – Metabolic diseases

A 2-year-old boy, of Jewish Ashkenazi descent, had developed well until 5 months of age, and then a developmental regression occurs, with an exaggerated startle reflex. In time deafness and blindness developed, as well as an inability to speak or walk. Examination reveals marked hypotonia, macrocephaly, and the retinal finding in the attached picture.

Which of the following is the most likely diagnosis?

A 1-month-old infant female is referred for workup of significant hypotonia, respiratory distress, and feeding difficulties. Laboratory results are positive for elevated CPK, and an echocardiogram reveals hypertrophic cardiomyopathy.

Which of the following is the most appropriate treatment for this disease?

An 8-year-old male, for several months he has been treated with medications due to a new diagnosis of adrenal insufficiency. In the last year, his academic achievements have declined, and he has difficulty concentrating and has behavioral disorders. As part of an investigation after his first seizure, a brain MRI was performed, which demonstrated widespread lesions in the white matter. Which of the following laboratory tests would advance the diagnosis?

A 2-month-old male, his parents are first cousins, born weighing 2.8 kg, currently weighs 3.2 kg. Examined due to difficulty eating and breathing difficulties.
His examination demonstrated significant hypotonia.
In imaging, the following finding was demonstrated.

What is the treatment?

A 6-year-old boy is admitted due to skin ecchymosis, anemia, thrombocytopenia, hepatosplenomegaly, and bone pain.

Which of the following is the most appropriate treatment ?

A 2-months-old infant has been somnolent for the last few hours, and has difficulty feeding. Examination reveals tachycardia, mild tremor of the legs, and hepatomegaly 3 cm below the rib cage. Serum glucose levels are 35 mg/dl, urine is positive for ketones, a serum lactate is increased.

Which of the following is the most likely diagnosis?

A 2-week-old male presents to the ER with multiple episodes of vomiting, poor appetite, and weight loss since birth. On examination, he is pale, drowsy, and has hepatomegaly on abdominal palpation. Laboratory results show hypoglycemia, and the urine test is negative for ketones.
What is the most likely diagnosis?

An 8-year-old male with newly diagnosed adrenal insufficiency has been treated with medications for the past few months. In the past year, there has been a decline in his academic performance, including concentration difficulties and behavioral issues. As part of an evaluation for new-onset seizures, a brain MRI was performed, revealing widespread lesions in the white matter.

Which laboratory test is likely assist in determining the child’s diagnosis?

A 1-week-old male, born at home. Presents to the clinic with vomiting, hypotonia, generalized weakness, and refusal to eat since 2 days old. In the past day, he has shown poor suckling and reduced responsiveness to stimuli. The parents report his urine has a sweet odor.

Which test is likely to advance the diagnosis?

Male, 12 years of age, recently diagnosed with primary adrenal insufficiency and treated with a maintenance dose of steroids. Now, the school teacher reports a reduction in study achievements and behavioral changes and suspects Attention Deficit and Hyperactivity Disorder.

What is the next step in his assessment?

Female, 8 days old, was referred to the ER due to sleepiness and loss of appetite that has worsened in the past day.

Normal blood count. Ammonia level is 300 micromol/L (high), blood glucose – 30 mg/dL. Gases:

ph-7.05

HCO3- 11

Na- 135

K- 5

Cl- 98

What is the likely diagnosis?

A two-day-old baby is examined for poor appetite, sleepiness and apathy. Tests as described in the table. Urinalysis demonstrated elevated uric acid.

What is the most likely diagnosis?

An 11-year-old boy (image attached), known developmental delay. Physical examination: systolic heart murmur, hepatosplenomegaly, joint rigidity and short stature. Brain MRI found mild hydrocephalus. No corneal opacity.

There are several boys with a similar condition in the family. What is the most likely diagnosis?

A 16-year-old male complains of chronic tiredness and bone pains for about a year. Hepatosplenomegaly in physical examination. Normal eye examination.
Lab tests: normocytic anemia and thrombocytopenia.
X-rays of the distal femur as described in the image.

What is the most likely diagnosis?

A term 3600 g newborn is diagnosed with indirect hyperbilirubinemia at the age of 24 hours. Labs – total
bilirubin 25 mg/dl, direct bilirubin 1.3 mg/dl, no evidence of hemolysis. He is treated with phenobarbital
due to insufficient response to phototherapy and bilirubin levels decrease substantially.
Which of the following is the most likely diagnosis?