Titubation and neuroregression

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Titubation and neuroregression

Author: Pediatric Oncall

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Case Report: - A 5 month old girl born of third degree consanguineous marriage presented with titubation and left focal convulsion since 15 days which are clonic tonic movements of left hand 4-5 times a day. She has stridor since 1 month of age. There is no fever. Mother is an epileptic on anticonvulsants since 2 years. Mother’s MRI and EEG are normal and she is also on folic acid. The child had normal milestones till date but was now not recognizing parents. She was immunized till date on exclusive breast feeds and mother was on a vegetarian diet. On examination, the baby had head lag, hypotonia, hyperpigmented knuckles, sluggish deep tendon reflexes and equivocal planters with hepatosplenomegaly. Investigation showed:
• Hemoglobin = 9.1 gm, dl {MCV = 81.9 fl, MCH = 26.7 pg, MCHC = 32.6 percent}
• WBC count = 13,600, cumm {36 percent polymorphs, 60 percent lymphocytes}
• Platelet count = 4,57,000, cumm
• SGPT = 26 IU, L
• Serum calcium = 9.4 mg percent, phosphorus = 4.2 mg percent, alkaline phosphatase = 356 IU, L.
• Creatinine = 0.6 mg percent
• Random blood sugar = 106 mg percent
• Serum sodium = 130 mmol, Lit., potassium = 4.6 mmol, Lit., Chloride = 108 mmol, L
• No metabolic acidosis
• EEG = Awaited
• MRI brain = Normal

What is the diagnosis_?

Answer Discussion :

E

eman enezic

0

neuroblastoma

15 years ago

W

wesam abouzeid

0

vitamin b12 deffeciency

15 years ago

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Answer 1

The authors have replied that Vitamin B12 levels were normal in this child and so it was not infantile tremor syndrome and there was no response to Inj B12. The VMA did not show neuroblastoma

Titubation and neuroregression

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