Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults. Here we report a case of adult onset episodic encephalopathy due to citrin deficiency. A 40 years old male presented with one-year history of episodic encephalopathy triggered by high protein and fat diet. He also had chronic pancreatitis and subacute intestinal obstruction which is a novel manifestation of CTLN2. Evaluation showed elevated blood liver enzymes, ammonia, and citrulline. MRI brain showed frontal hyperintensities and bulky basal ganglia which have not been reported. Diagnosis was confirmed by next-generation sequencing which showed a novel variant c. 1591G > A in exon15 of SLC25A13. Hyperammonemic syndromes should be considered in differential diagnosis of episodic encephalopathy in adults. This report shows novel features of subacute intestinal obstruction and MRI findings in CTLN2 expanding spectrum of manifestation.
Rheumatic heart disease(RHD) still remains an endemic in India. It is one of the major causes of mortality
and morbidity in parturients in developing countries. We present a 26 year old second gravida with
history of chronic rheumatic heart disease with multiple valvular disease. She presented with complaints of palpitations,
dyspnoea progressing from New York Heart Association (NYHA) class II to class III. On physical examination, patient was pale,
had bilateral pedal edema, tachycardia, dyspnoea, undifferentiated murmur on auscultation. Further evaluation revealed
anemia, dilated left atrium, moderate mitral regurgitation, mild mitral stenosis, mild aortic regurgitation and fetal distress.
Patient was taken for emergency caesarean section in the view of maternal condition and fetal distress. She developed
pulmonary edema during surgery and was kept on ventilator to optimize the patient condition with further management. She
was successfully extubated after 3 days of meticulous care in intensive care unit (ICU).
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