ABCD Syndrome: An acronym that stands for Albinism, Black lock, Cell migration
disorder of the neurocytes of the gut, and Deafness. It is considered an autosomal
recessive inheritance condition, characterized pathologically by aganglionosis of large
intestine, total absence of neurocytes and nerve fibers of small intestine, and total lack
of sympathetic and parasympathetic innervation in small and large intestine. Usually lethal
within the first months of life due to gastrointestinal dysfunction. The clinical features
include albinism, macrosomnia, black lock at temporal occipital region, and retinal depigmentation.
It is essential to evaluate the intravascular volume status, serum electrolytes, serum albumin,
cell blood count, and coagulation profile. A chest x-ray and an ECG must be obtained to assess
the respiratory and cardiac status.