Progressive external ophthalmoplegia
An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.
Disease Alternative Name
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AADESH MEDICAL COLLEGE
Associate Professor HEAD OF UNIT PAEDIATRIC
Dr SN Medical College Jodhpur
MD PAEDS
S M S Medical College & Hospital
Assistant Professor Ophthalmology
Dr R P Centre, AIIMS,
MD Ophthalmology
Municipal Eye Hospital
Ophthalmic Surgeon
NBE Dwarka Office
DIPLOMATE.OF NATIONAL BOARD
Divyajyot Eye Hospital.
M.S. (Ophthalmology ).
Government Medical College, Surat.
M.S (Ophthalmology ); D.O; M.B.B.S.
CMRI
MD (Pediatrics), DNB (superspecialty) Neuro-medicine
Calcutta Medical Research Institute
DNB NEUROLOGY
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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