Joubert syndrome with nephronophthisis in neurofibromatosis type 1

Jobber syndrome (JS) is a rare developmental disorder of the central nervous system, characterized by brainstem and cerebellar malformations, hypertonia, episodic hyper apnea and apnea and mental retardation. It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc...

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Bibliographic Details
Published in:Saudi journal of kidney diseases and transplantation 2011-07, Vol.22 (4), p.788-791
Main Authors: Ghamidi, Jawad Ahmad, Ali, Uma S.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Biopsy
Care and treatment
Case studies
Cerebellar Diseases - diagnosis
Cerebellum - abnormalities
Child
Complications and side effects
Diagnosis
Diagnosis, Differential
Electron microscopy
Eye Abnormalities - diagnosis
Female
Follow-Up Studies
Humans
Joubert syndrome
Kidney - abnormalities
Kidney Diseases, Cystic - diagnosis
Magnetic Resonance Imaging
Neurofibromatosis
Neurofibromatosis 1 - diagnosis
Retina - abnormalities
Risk factors
المضاعفات
الورم الليفي العصبي
انضمار الكلية
متلازمة جوبيرت
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Description
Summary:Jobber syndrome (JS) is a rare developmental disorder of the central nervous system, characterized by brainstem and cerebellar malformations, hypertonia, episodic hyper apnea and apnea and mental retardation. It may be associated other systemic abnormalities like ocular (e.g., retinal dysplasia, etc.), coulometer, musculoskeletal and renal (e.g., cystic dysplasia, nephron phthisis), with renal failure. We describe a case of JS with nephron phthisis in neurofibromatosis Type 1 leading to end-stage renal disease, an association that has never been described earlier in the medical literature to the best of our knowledge.
ISSN:1319-2442
2320-3838