Diagnostic Dilemma

Six Months Old with Uprolling of Eyes

A 6 months old girl born of non consanguineous marriage presented with multiple episodes of uprolling of eyes associated with bluish discoloration of lips and fingers. There was no loss of consciousness, frothing at mouth or bladder/bowel incontinence. There were no excessive crying spells and child was normal in between the episodes. Her birth, milestones and immunization were normal. On examination, weight was 6 kg, vital parameters were normal. There was no pallor, or rickets. Systemic examination was normal. Investigations showed hemoglobin of 14 gm/dl, WBC of 7,200 cells/cumm and normal platelets. Her serum calcium, sugar and electrolytes were normal. She was treated with phenytoin and phenobarbitone but had no response.

What is the diagnosis?
Expert Opinion :
This child has a seizure like episode but apart from uprolling of eyes, there are no other features of seizures. Bluish discoloration of lips and fingers suggests cyanosis. Cyanosis is usually not a part of seizures unless there are prolonged seizure activity and hypoxia. Seizure like activity and cyanosis can occur with a breath holding spell but this child has no provoking factor, does not have breath holding and so it seems unlikely. Though the child does not have cyanosis at rest, the hemoglobin is high in this child and the child does get cyanosed when she gets these episodes. Thus, it suggests that the child may be having cyanotic spells. The age of appearance of cyanotic spells is usually around 6 months of age which is present in this child. Thus, there may be an underlying cyanotic heart disease in the child which may be having tetralogy of Fallot (TOF) physiology and causing spells. TOF physiology usually leads to a single second heart sound and there would be a soft systolic murmur. However if the pulmonary stenosis is more peripheral in the pulmonary arteries, the second heart sound may be normal. Also, there may be absence of murmur. In this child, echocardiography showed right pulmonary artery stenosis with TOF physiology. Thus, not every uprolling of eyes is a seizure and not every seizure like spell with cyanosis is a breath holding spell.
Answer Discussion :
Augusta Kutor
Pink Fallot
5 months ago
Essam Gaber
5 months ago

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