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This form of the condition has the most severe clinical manifestations. In this form of the disease the infants are normal at birth and they develop poor feeding and vomiting during the first week of life. Lethargy and coma develop over the next few days.
Examination reveals hypertonicity and muscular rigidity with severe opisthotonus. There may be alternation between periods of hypertonicity and periods of flaccidity. The clinical features may be mistaken for those of generalised sepsis and meningitis. Convulsions are a common finding and hypoglycaemia is often present. Correction of the hypoglycaemia does not improve the clinical condition. If the condition is untreated, death usually occurs within the first months of life.
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