Isolated Neurosarcoidosis Revealed by Diabetes Insipidus, Visual Loss and Diplopia in a Child Patient: A Diagnostic Problem

• DOI: 10.1297/cpe.18.51
• Publication Date: 2009-02-24T05:56:50Z
• Authors: Rached Jomaa; Mohamed Habib Sfar; Samia Younes Mhenni; Saleh Jenzri; Saida Jerbi; Baha Zantour; Riad Messoud
• Keywords: Neurosarcoidosis; Polyuria; Polydipsia

We report a case of 15-yr-old child that was presented with headache, polyuria, polydipsia, recent ocular motor and abducens nerve palsies rapid visual loss. He had long history progressive symmetric muscular weakness predominant in the lower limb girdle. Water deprivation revealed central diabetes insipidus. Hormonal explorations demonstrated preserved pituitary function mild hyperprolactinemia at 21.5 ng/ml (N: 2.6 to 13.1 ng/ml). Magnetic resonance imaging showed an extensive isosignal T1 hyposignal T2 enhanced lesion infiltrating gland, optic-chiasmal hypothalamic region, cavernous sinus, cerebrum tent sphenoid temporal meningeal spaces. The serum level angiotensin converting enzyme cerebrospinal fluid analysis were normal. No other systemic localisation identified. Muscle biopsy objectified dystrophic changes. Genetic study identified delT 521 mutation characteristic Limb-girdle dystrophy type 2C. Corticotherapy rapidly ameliorated neurological symptoms. This patient diagnosed as having neurosarcoidosis. Neurosarcoidosis is rarely reported childhood. discuss problems related diagnosis such situation below.