Diagnostic Dilemma

Recurrent apnea

A 1½-month-old boy born of non-consanguineous marriage presented with intermittent rapid respiration and breath-holding spells of 1 hour and tonic posturing of all 4 limbs without uprolling of eyeballs. There was no history of fever, lethargy, refusal of feeds, loose motions, or vomiting. He was admitted 15 days ago with apnea and diagnosed to have sepsis. CSF done at that time was normal. He had required ionotropic support and was treated with antibiotics for 10 days. His C-reactive protein, blood culture, and septic workup were negative. He was a full-term cesarean section delivery with a birth weight of 2.2 kg. Cesarean section was done in view of previous LSCS. He required NICU stay for 6 days in view of respiratory distress. On examination, he had mottling of the skin, was lethargic. Vital parameters were normal and systemic examination was also normal. Investigations showed:
• Hemoglobin = 7.5 gm/dl
• WBC = 9,800/cumm
• Platelet count = 5,56,000/cumm
• S.sodium = 132 mEq/L, potassium = 5.5 mEq/L and ionic calcium = 1.15 mEq/L
• Random blood sugar = 116 mg%
• CRP = Negative
• Urine = Normal
• Venous blood gas = pH = 7.45, bicarbonate = 15.5 mmol/L
• CSF = 4 lymphocytes with normal sugar and protein
• Blood culture = No growth.

What are the differential diagnosis?
Answer Discussion :
Sami Alhazmi
inborn error of metabolism
Iron-deficiency anemia

2 Days ago
abdo farea
inborn error of metabolism
5 Days ago

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