SUMMARY During a national survey of Hunter's syndrome, 52 boys with the severe form were ascertained. The averageages of onset and death were 2. 47 and 11.77 years respectively. Most patients had a large head and short stature. Persistent diarrhoea was noted in 65 per cent of the patients. 76 per cent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32 per cent respectively. Evidence of cardiovascular disease was found in 65 per cent of cases; and serious lower respiratory‐tract disease ocurred in 84 per cent. Induction of anaesthesia proved difficult or impossible in five boys. The disease pattern was dominated by the effects of neurological involvement, with initial developmental delay and behavioural disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease. RÉSUMÉ Histoire naturelle des formes sévères du syndrome de Hunter: etudes hasées sur 52 cas 52 garçons présentant un syndrome de Hunter à forme sévère ont fait I'object d'une étude dans le cadre d'une approche nationale du syndrome de Hunter. Les âges moyens de début et de décès ont été respectivement 2 47 et 11. 77 ans. De nombreux malades ont présenté les signes suivants: tête large et courte statur: diarrhée persistante (65 pour cent): hernie ombilicale (76 per cent), hernies inguinales droite et gauche (51 et 32 pour cent): signes d'affection cardio‐vasculaire (65 pour cent) et des voies respiratoires inférieures (84 pour cent). La mise en place d'une anesthésie s'est révélée impossible chez cinq garçons. L'allure de la maladie a été dominée par les conséquences de I'atteinte neurologique avec retard du dëveloppement initial et troubles du comportement, suivis par régression avec convulsions et signes pyramidaux. La mort fut provoquée principalement par cette cachexie neurodégénérative avec affection respiratoire surimposée. ZUSAMMENFASSUNG Anamnese der schweren Form des Hunter Syndroms: eine Studie basierend auf 52 Fällen 52 Jungen mit der schweren Form des Hunter Syndroms wurden in einer nationalen Übersicht über das Hunter Syndrom ermittelt. Das Durchschnittsalter des Krankheitsbeginns und des Todes lag bei 2 47 bzw. 11. 77 Jahren. Viele Patienten zeigten folgende Symptome: großer Kopf und kleine Statur, persistierende Diarrhoe (65 Prozent), Nabelhernie (76 Prozent), beidseitige Inguinalhernie (51 und 32 Prozent), Anzeichen einer kardiovaskulären Erkrankung (65 Prozent) und Bronchopulmonalerkrankungen (84 Prozent). Bei fünf Jungen erwies sich die Einleitung einer Narkose als schwierig bzw. unmöglich. Das Krankheitsmuster wurde bestimmt durch die Folgen der neurologischen Beteiligung, mit anfänglichen Entwicklungsverzögerungen und Verhaltensstörungen, gefolgt von Anfällen und Pyramidenbahnzeichen. Als Todesursache stand diese neurodegenerative Kachexie mit einer dazukommenden Erkrankung der Atemwege im Vordergrund. RESUMEN Historia natural de la forma grave del sindrome de Hunter; estudio basado en 52...

SUMMARY The clinical features are described in 31 cases of the mild form of Hunter's syndrome (mucopolysaccharidosis II) ascertained in the British Isles. The mean age at onset was 49 3 years and at death was 21-7 years. Each patient had a large head and short stature. Umbilical and inguinal herniae were recorded in 95 % and 61 % of the cases. Evidence of cardiac disease was found in 91 %; this was the most common cause of death. All of the patients suffered from frequent upper or lower respiratory tract infection. Middle airways obstruction proved to be a particular hazard. A high incidence of sensorineural deafness and unexplained papilloedema was noted. The importance of regular health care for these individuals is stressed.

No abstract

Harper, P. S. (1975

Somnolence in myotonic dystrophy (DM) has not been measured using a reliable daytime somnolence scale. The aim of this study was to compare somnolence in DM patients with healthy controls and Charcot-Marie-Tooth disease (CMT) patients using such a scale and to compare this with potential contributory factors. We investigated 35 subjects with adult-onset DM, 16 healthy controls and 13 CMT controls. The Epworth Sleepiness Scale (ESS) was the principal measurement of daytime somnolence. Nocturnal sleep was assessed using a sleep diary. Other assessments measured daytime respiratory function, cognitive function, motor impairment, disability, swallowing capacity and depression. DM and CMT patients had greater daytime sleepiness than unaffected controls. In the DM group significant correlations were found between somnolence and measures of disability, sleep quality and some measures of depression. It was concluded that there is an abnormal level of daytime somnolence in DM, which is partially associated with disability.