Intrafamilial phenotypic variability of Hallervorden-Spatz syndrome in a Tunisian family

We report clinical features, CT-scan and MRI findings of three siblings wit h Hallervorden-Spatz disease, one of them followed for more than 20 years. Patient 1 presented at age 10 with progressive generalized dystonia. Five y ears later she had violent dystonic spasms with opisthotonos and marked ore -mandibular involvement. Later, dystonia stabilized and examination showed dysarthria, multiple deformities related to dystonic posturing, retinal deg eneration and no cognitive impairment. Cerebral CT-scan showed bilateral pa llidal lucencies and T2 cerebral MRI showed the "eye of the tiger" sign. Patient 2 developed delusions and hallucinations at age 18 with acute phase s of hetero-aggressivity diagnosed as "schizophrenic" in a psychiatric hosp ital. At age 20, he developed oromandibular dystonia, severe dysarthria and epilepsy. Cerebral MRI showed the same "eye of the tiger" sign. Patient 3 presented at age 37 with isolated psychiatric features similar to those of patient 2, also diagnosed "schizophrenic" in a psychiatric hospit al. Neurological examination showed mild postural tremor of the hands and i ntermittent cervical dystonia. He was stabilized with neuroleptic treatment . This family shows marked intrafamilial variability of age at onset, symptom at onset (with "schizophrenic" features unusually described and lending to misdiagnosis), clinical presentation (almost entirely dystonic in one pati ent and almost entirely psychiatric in two others) and course of the diseas e (slowly progressive in one sibling, rapidly deteriorating in the second a nd stabilization in the third). Classification and nosology of subtypes of HSD are discussed. (C) 2000 Elsevier Science Ltd. All rights reserved.