Sanfilippo syndrome
A rare autosomal recessive lysosomal storage disease affecting the metabolism of mucopolysaccharides. Signs and symptoms include behavioral changes, sleep disorders, mental developmental delays, and seizures.
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S M S Medical College & Hospital
Assistant Professor Ophthalmology
Dr R P Centre, AIIMS,
MD Ophthalmology
Super Specialist in Reproductive Endocrinology
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A case of Abdominal epilepsy *Chief Complaints* Loss of consciousness one episode Pain abdomen and loose stools *History* A female patient 25 year old came to the OPD with complaints of loss of consciousness after an episode pf loose stools prior to which she had severe crampy abdominal pain. Symptoms lasted for about 3-4 min witnessed by her mother.No h/o tonic clonic movements. No h/o fever headache giddiness, visual disturbance or ENT symptoms No post episode headache limb weakness Known case of IBS on diet.Hypothyroid on 25 mcg Thyronorm OD.. *Vitals* Normal *Investigations* EEG normal.MRI brain small nodular subependymal heterotopia adjacent to the atrium of right lateral ventricle. *Physical Examination* Nothing significant *Diagnosis* Abdominal Epilepsy *Management* Started on Tab Carbamazepine 300 mg incremental dosage
Dr. Naga Tanooj0 Like2 Answers - Login to View the image
CHOICE OF MECHANICAL VENTILATION
Dr. Prashant Vedwan1 Like1 Answer