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Naqeeb, Mohammed R.
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Medicine & Pharmacology

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Bilateral Optic Nerve Atrophy Case Report Naqeeb, Mohammed R.; Abdulmannan, Dina M
Majalah Kedokteran Bandung Vol 56, No 1 (2024)
Publisher : Faculty of Medicine, Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.15395/mkb.v56.3334

Abstract

Wolfram syndrome, also known as DIDMOAD or juvenile onset diabetes mellitus, optic nerve atrophy, diabetes insipidus, and deafness, is a genetic neurological condition. This case report provides a description on the first instance of Wolfram syndrome in a Saudi family, which manifested as proliferative diabetic retinopathy and a powder-like cataract, among the other unusual ophthalmological findings. This case involved a 27-year-old Saudi woman with bilateral optic nerve atrophy who was first diagnosed with diabetes mellitus at the age of 8 years. At the age of 18, bilateral optic nerve atrophy was identified. At the age of 27, diabetes insipidus and hearing loss were verified. There were no signs of renal, neurological, or psychiatric issues. Atypical ophthalmological traits were examined and addressed in this study. Any individual with bilateral optic nerve atrophy and insulin-dependent diabetes mellitus within the first 30 years of life should be evaluated for the possibility of Wolfram syndrome. Microvascular diabetes is an incredibly rare complication of Wolfram syndrome. Early diagnosis, treatment, and prevention of severe consequences can result in improved survival rates and quality of life.
Clinical Profiles of Obstructive Hydrocephalus in Patient with Von Hippel–Lindau Naqeeb, Mohammed R.; Abdulmannan, Dina M.
Majalah Kedokteran Bandung Vol 56, No 2 (2024)
Publisher : Faculty of Medicine, Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.15395/mkb.v56.3347

Abstract

Von-Hippel-Lindau (VHL) is an autosomal dominant disease that affects multiple systems that may result in benign and malignant multisystem tumors. The estimated incidence of VHL is 1 in 36,000 births. Disease incidence ranges from 10 to 40 years, with an average of 26 years, and it impacts diverse ethnic groups. VHL results from mutations in the germ line that have been mapped to chromosome 3P25. Currently, this is the only gene known to cause the syndrome. This study presented a case of obstructive hydrocephalus in a patient with VHL. A 19-year-old female was referred to the Eye Clinic for a diagnosis of papilledema. She began to experience vagal abdominal discomfort for no apparent reason. Per exam, the patient had 20/20 OD and 20/400 OS, with an intraocular pressure of 14 OU. The patient's MRI revealed a posterior fossa cranial cystic brain lesion that was obstructing the fourth ventricle and causing obstructive hydrocephalus. Early detection, management, and focal laser treatment of capillary hemangiomas in the retina's periphery led to favorable visual outcomes. Even after vitreoretinal surgery, the tumors may cause exudative retinal detachment and have an inferior visual prognosis if left untreated.
Co-Authors Abdulmannan, Dina M Abdulmannan, Dina M.