Combined saposin deficiency: A rare occurrence.

Combined saposin deficiency (OMIM #611721), an exceedingly rare lysosomal storage disorder, is caused by a mutation in the gene PSAP. This gene encodes a protein, prosaposin, that cleaves into four constituent proteins, each of which has a role as a cofactor for the enzymes whose deficiency results in Krabbe disease, metachromatic leukodystrophy, Gaucher disease, and Farber disease, respectively. Intact prosaposin itself is essential for neuronal survival. The typical manifestation of combined saposin deficiency is of severe neurological features in the neonatal period, hepatosplenomegaly, thrombocytopenia, and early death. We report, to the best of our knowledge, the first Indian case with these clinical manifestations and confirmation by genetic and enzymatic testing.

Pruritus as Unusual Manifestation of Lupus Myelopathy.

Lupus myelopathy is a relatively uncommon manifestation of SLE. Atypical presentation of this rare entity with neuropathic itch has never been reported. We report a young girl who presented with predominant symptom of refractory pruritus which after clinical localization and imaging was detected to have long segment patchy myelitis. Detailed evaluation led to a diagnosis of lupus myelopathy and the patient responded to immunosuppressive therapy with significant clinical and radiological improvement. Maintaining a high level of suspicion for neurological cause in a patient with refractory localized itching resistant to regular antiallergic treatment is important in the right clinical setting.