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