Diagnostic Dilemma

Recurrent apnea


Author:
Question
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?
Expert Opinion :
This child has had 2 episodes of illness. In both these episodes, the infection has not been found. Thus in a neonate with apneic spells, seizures without any infection, one must rule out a metabolic disorder. In this child, there is acidosis. One must rule out mitochondrial disorder, organic acidemia, and other inborn error of metabolism. The baseline workup in form of ammonia, urine aminoacidogram, serum lactate and Pyruvate, and MRI brain will be required. In this child serum, ammonia was 348mcg/dl (elevated). MRI brain was normal and UAA, as well as urine organic acids, were normal. This child is on regular follow-up.
Answer Discussion :
A
Antonio Gennuso
bubble
croup
6 months ago
N
naveed anjum
bubble
NON KETOTIC HYPERGLYCINEMIA
LONG QT SYNDROME
GLUT 1 DEFICIENCY

6 months ago

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