Spastic diplegia is characterized by spasticity in the upper or lower extremities whereby the lower extremities usually are more affected. Cerebral palsy (CP) with prematurity is highly associated with spastic diplegia.1 In the European Cerebral Palsy Study, spastic diplegia was the most common subtype of CP.2 Perinatal asphyxia events lead to bilateral periventricular white matter injury and d...

Hellstrdm, B. (1949). Congenital facial diplegia. Acta paediat. (Uppsala), 37, 464-473. Henderson, J. L. (1939). The congenital facial diplegia syndrome. Clinical features, pathology and aetiology. Brain, 62, 381-403. Heubner, 0. (1900). Ueber angeborenen Kemmangel (infantiler Kemschwund, Moebius). Chariti-Ann., 25, 211-243. Hurwitz, L. J., Carson, N. A. J., and Allen, I. (1968). Congenital oph...

A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of t...

and predominant lower motor neuron involvement, which has been confirmed pathologically. In contrast, other FUS mutations present more frequently with flail arm syndrome or with typical limb or bulbar onset ALS. Our patient with juvenile-onset ALS, an R521C missense mutation, and a flail leg presentation represents an unusual combination. FUS mutations should be assessed in young patients who p...

RISER, M., GERAUD, J., RASCOL, X., RISER, A. & SAINTMARC, M. (1957) Syndrome de Guillain-Barr6 et Strohl a evolution ascendante avec hypertension intra-cranienne. Bulletin et MWmoires de la Soci&t medicale des Hopitaux de Paris, 73, 689. SARACCO, J.B., GENEVET, J. & MOULY, A. (1971) Atrophie optique et dissociation albumino-cytologique. Bulletin des socigtts d'ophtalmologie de France, 71, 637. ...

Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. The authors describe the clinical course of a 6-year-old girl with Brown-Vialetto-Van Laere syndrome and a novel homozygous mutation c.1156T>C in the SLC...