The results of prospective noninvasive cardiologic investigations, including echocardiography and Holter monitoring are described in 2 siblings with juvenile ceroid lipofuscinosis of the Spielmeyer-Vogt-Sjogren type. In the elder patient, echocardiography revealed ventricular hypertrophy with slowed ventricular relaxation. Holter monitoring showed not only bradycardia but also slow and fast ectopic atrial rhythms, sinus arrests and complex ventricular ectopic activity including ventricular tachycardia. In the younger patient the findings were less severe. These functional disturbances due to cardiac involvement, never reported before in this disease, are discussed.

Adult neuronal ceroid lipofuscinosis (NCL), also called Kufs'' disease, is clinically distinct from the other NCLs. It is a rare condition which is difficult to diagnose. More than 50% of the reported cases of Kufs'' disease are not adult NCL and correspond very likely to a heterogeneous spectrum of lipidoses. Various clinical and genetic phenotypes of adult NCL may be recognized, one featuring a progressive myoclonus epilepsy. It is important to stress that in contradistinction with the juvenile and protracted juvenile NCL, there is no pigmentary degeneration of the retina. Adult NCL is an autosomal recessive condition but two families have an autosomal dominant inheritance.

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Neuropathological data from the autopsy of a 5 1/2 year-old female patient with the Wiedemann-Rautenstrauch or neonatal progeroid syndrome are reported. Extensive demyelination is found in the central nervous system with occasionally a tigroid pattern and with large amounts of neutral fats and intermediate debris of myelin breakdown in macrophages. These lesions are characteristic of pure sudanophilic leucodystrophy. Features differentiating the findings from those in Pelizaeus-Merzbacher disease and in other disorders associated with sudanophilic leucodystrophy with various special characteristics are presented and discussed.

Sir: We report on a male patient of normal birth weight and length with a deletion of 18q21.31-qter. He presented with congenital hips subluxation, inguinal hernia, sublingual frenulum and prognathism. His ®rst months of life were characterized by frequent vomiting and drooling. His staturo-ponderal evolution followed the 3rd percentile except for a decline during the period preceding the diagnosis of coeliac disease at the age of 1 year. His adult height is 161 cm (mid-parental height is 158 cm). At the age of 1 year he developed clinically visible steatorrhoea. A gastro-intestinal work up showed coeliac disease according to the ESPGAN standard of three jejunal biopsies for diagnosis.His psychomotor development was slow. He walked alone at the age of 20 months. Psychological testing at the age of 4 years showed a real desire for communication with only short sentences of two words despite repetitive autistic behaviour. Playing was symbolic and relational. At the age of 10 he showed a verbal intelligence quotient (VIQ) of 97, a practical intelligence quotient (PIQ) of 87 and a total intelligence quotient (TIQ) of 90 on the Wechsler intelligence scale for children (WISC). At the age of 18 years a complete re-evaluation showed a VIQ of 97, a PIQ of 82 and a TIQ of 89 using the Wechsler Adult Intelligence Scale.Neurological examination showed a cerebellar syndrome (hypotonia, tremor and dysarthria). A CT scan of the brain performed at the age of 3 years revealed a small cerebellar caudal volume and enlarged ventricles. MRI at the age of 9 years con®rmed the cerebellar ®ndings. Further MRI at the age of 18 years showed a prominent cisterna magna, broad vallecula and small but normal cerebellar tonsils. The foramen of Magendie was relatively broad. He had sporadic short episodes of conscience loss without pathognomic signs of epilepsy on EEG. The visual evoked potentials showed a prolonged latention time.Cytogenetic analysis showed a deletion of the long arm of chromosome 18q. The karyotype was 46, XY, del(18) (q21.31-qter) (Fig. 1b). Since the basic myelin protein (MBP) gene is located in 18q22-qter, molecular analysis of a polymorphic marker in the MBP gene was performed. The paternal copy of the MBP gene was deleted. This was a de novo deletion as the father had two MBP copies. Fluorescence in-situ hybridisation with a total chromosome 18 paint probe (Fig. 1a,d) excluded the possibility of a translocation of the missing chromosome 18q region to another chromosome.A special feature in this case is the IQ which is higher than the IQ range found in the literature (73A<40) [2]. The variations seen in myelinization [1], evoked potentials and intelligence quotient, suggest that the MBP absence in the peripheral nervous system in the 18q-syndrome does not appear to have a clear functional eect.This is the ®rst time that an association has been observed between an 18q-syndrome and coeliac disease. It is unclear whether this is a casual association or whether chromosome 18q harbours a gene that plays a role in the pathogene...