Xeroderma pigmentosum
An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.
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Super Specialist in Reproductive Endocrinology

Distt. Red Cross Society Bhawan
Honorary Medical Officer
SPMC, Bikaner
MBBS


Dr KUTE HOSPITAL
Dr KUTE HOSPITAL
Govt. Medical College Miraj
D M &S

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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
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CHOICE OF MECHANICAL VENTILATION
Dr. Prashant Vedwan1 Like1 Answer
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