Cervical dysgenesis with transverse vaginal septum with imperforate hymen in an 11 year old girl presenting with acute abdomen.

This case highlights the importance of careful evaluation of girls presenting with imperforate hymen as this is accompanied by other female reproductive tract anomalies. It is of utmost importance that a correct timely diagnosis is made so that the right treatment can be chosen with the perspective of future fertility. Cervical dysgenesis associated with vaginal septum and imperforate hymen has not been reported in literature so far. Present case highlights the simple mode of management with a successful outcome.

Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1ß.

Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced/absent activity of the branched chain α-Ketoacid dehydrogenase enzyme complex. Mutations in BCKDHA, BCKDHB, and DBT, that encode important subunits of the enzyme complex namely E1α, E1ß, and E2, are the primary cause for the disease. We have performed the first molecular genetic analysis of MSUD from India on nine patients exhibiting classical MSUD symptoms. BCKDHA and BCKDHB mutations were identified in four and five patients, respectively including seven novel mutations namely the BCKDHA c.1249delC, c.1312T>C, and c.1561T>A and the BCKDHB c.401T>A, c.548G>A, c.964A>G, and c.1065delT. The BCKDHB c.970C>T (p.R324X) mutation was shown to trigger nonsense mediated decay-based degradation of the transcript. Seven of the total 11 mutations resulted in perturbations in the E1α or E1ß C-termini either through altered termination or through an amino acid change; these are expected to result in disruption of E1 enzyme complex assembly. Our study has therefore revealed that BCKDHA and BCKDHB mutations might be primarily responsible for MSUD in the Indian population.