Twenty eight children with herpes simplex encephalitis were followed up for a mean of 5.5 years. Two children died and 26 survived, of whom 16 were left with no neurological sequelae and 10 had persistent neurological sequelae. Mean (SD) Glasgow coma score was significantly lower in the patients with neurological sequelae (7.7 (1.5)) and the patients who died (4.5 (0.7)), compared with the patients without neurological sequelae (11 (1.7)). (Arch Dis Child 1999;80:69-71)

SUMMARY"Wo s i b l l n g s of consanguinous p a r e n t s were noted t o have a neurologic syndrome parked by Zevelopmeptal d e l a y , r e q r e s s l o n of p s y c h o m t o r performance, marked s p a s t i c i t y and p m g r e s s l v e c e n t r a l nervous system degeneration. Markedly delayed nerve conduction t i r e s and a s u r a l nerve h i o p y which d e~o n s t r a t f d changes t y p l c a l of metachromatic leuku2ystrophy (MLD) were evldent. Impairment of s u l f a t e d a l y c o l l p i d metabolism was d o c m e n t e d by a n a l y s i s of glycosplngol~p l E I" u r l n a r y sediment. I n s p i t e o f t h e s e fini.inos, a c t i v i t i e s of a r y ls u l f a t a s e E and c e r e b r o s l d e s u l f a t i d a s e m whlte blood c e l l s and c u l t u r e d s k i n f r b r a b l a s t s were near normal. However, wher, i n t a c t qrowlng f i b r o b l a s t s were loaded wlth 3 5~~4 -s t~l f a t i d e a c l e a r d e f e c t i n s u l f a t i d e cleavage, comparable t o t h a t seen 1~1 MLD p a t i e n t s , was observed. Thus, t h e s e p a t i e n t s r e p r e s e n t a new form of s u l f a t i d e s t o r a g e d i s e a s e -MLD c h a r a c t e r i z e d by i n t a c t enzyme a c t i v i t y l n c e l l h~~o g e n a t e s but d e f e c t i v e s u l f o l i p r d metabolism & viw and i n i n t a c t fibroblasts.Since c e l l homogenates from t h e s e p a t i e n t s can c l e a v e s u l f a t l d e i n t h e presence of l e t e r g e r t s while t h e p a t l e n t s themselves and t h e i r i n t a c t c e l l s cannot, some e x p l a n a t i o n o t h e r than d e c r e a s e s a c t i v i t y of t h e r e l e v a n t lysosomal enzyme must be lnvoked t o e x p l a i n t h l s s t o r a r e d i s e a s e . The two most p l a u s i b l e hypotheses are t h a t e l t h e r t h e s e p a t i e n t s have a d e f e c t which p r e v e n t s enzyme and s u b s t r a t e l n t e r a c t l o n I" t h e p r o p e r s u b c e l l u l a r l o c a t i o n , o r t h a t t h e s e p a t i e n t s are missing t h e p u t a t i v e g l y m p r o t e i n " a c t i v a t i n g factor'' necessary Metachromatic leukodystrophy (MLD) i s a w e l l known e r r o r of s u l f a t e d g l y c o s p h i n g o l i p i d metabolism(8). Deficiency o f c e r e b r o s i d e s u l f a t i d a s e a c t i vi t y i n a f f e c t e d p a t i e n t s l e a d s t o t h e i n t r a l y s o s o m a l accumulation of s u l f a t e d g l y c o l i p i d s i n a number of t l s s u e s .m e t o t h e normally s u b s t a n t i a l c o n t e n t of such s u l f o l~p i d s zn b r a r n white m a t t e r and p e r i p h e r a l nerves, d e f e c t s i n s u lf a t i d e deoradation l e a d t o t i s s u e s t o r a q e and consequent neumpathology i n c l u d i n g hemispheric demyelination as w e l l as changes i n t h e b a s a l g a n g l i a , d e n t a t e n u c l e u s , and hrainstem.Lesions I" t h e p e r i p h e r a l nervous system are c h a r a c t e r i z e d by intralysosomal accumulation o f netachrom...

We report on 6 patients with short stature and progressive enchondromatous-like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the similarity in radiographic changes and body proportions, genetic heterogeneity is suggested by the presence of CNS calcifications in 3 patients. Two of the latter had progressive quadriparesis. We tentatively classified these patients into 2 provisional types. An iliac crest biopsy in one of the patients with "type I" disease did not demonstrate enchondromatosis. Light and transmission electron microscopic studies demonstrated large cisterns and small inclusion bodies containing a flocculent material within the rough endoplasmic reticulum of the chondrocytes. Based on the histological and radiographic findings, we propose to classify these conditions among the spondylometaphyseal skeletal dysplasias.