Arch Dis Child: first published as 10.1136/adc.34.175.228 on 1 June 1959. Downloaded from CONGENITAL ANOMALIES ASSOCIATED WITH CEREBRAL PALSY AND MENTAL RETARDATION BY RONALD S. ILLINGWORTH From the Department of Child Health, the University of Sheffield and the Children's Hospital, Sheffield (RECEIVED FOR PUBLICATION DECEMBER l 5, 1958) In the past 12 years 800 children with mental should be significantly different from any larger retardation or with cerebral palsy have been seen series elsewhere. in the Children's Hospital, Sheffield, by the Depart- For the purposes of the study, cases of pre-natal ment of Child Health. While looking through or natal origin have been separated from those of punch-card summaries of these cases, it became post-natal origin. Tables 1 and 2 show the aetio- obvious that there was a much higher incidence of logical factors in the two groups of children, as far associated congenital anomalies in children with as they could be ascertained. There were some mental retardation without cerebral palsy than in children in whom the correct category was uncertain. those with cerebral palsy whether retarded or not. The defect in the so-called acute infantile hemiplegia, In view of the fact that in many ways there is a close similarity between the aetiological factors of the two TABLE 1 conditions, it was felt that an analysis of the AETIOLOGICAL TYPES OF CEREBRAL PALSY* associated anomalies and their incidence in the two Pre-natal or Natal (278) copyright. groups would be of interest. This paper analyses, Simple or non-specific (including spastic forms, athetosis, ataxia, tremor, rigidity and mixed forms). 266 therefore, the incidence and nature of associated Sturge-Weber syndrome 4 congenital anomalies in the two of Cerebral angioma 4 groups children. Schilder's disease 4 Pelizaeus-Merzbacher syndrome Friedreich's ataxia 1 Von Willebrand's syndrome with cerebral haemorrhage and Method of Study hemiplegia Post-natal Origin (22) The study is based on 300 children with cerebral Sequelae of pyogenic meningitis 4 Encephalitis or post-infectious encephalomyelitis 1 1 http://adc.bmj.com/ palsy (excluding hydrocephalus), and 500 children Trauma. 2 with mental retardation without cerebral palsy. They Cerebral vein thrombosis 3 Malignant hypertension are all consecutive cases, and constitute all the Fallot's tetralogy with cerebral vein thrombosis l children seen with these conditions by the Depart- ment of Child Health in the past 12 years. They * Excluding hydrocephalus. include all cases in which the diagnosis of mental TABLE 2 retardation or of cerebral palsy was made and AETIOLOGICAL TYPES OF MENTAL RETARDATION* indexed, and therefore are not in any way selected. on September 24, 2021 by guest. Protected They include all degrees of severity, from the most Pre-natal or Natal (465) Mongolism without congenital cardiac lesion (some with trivial symptomless cerebral palsy and the most other defects) .. .. .. .. 63 Mongolism with congenital cardiac lesion (some with other trivial degree of mental retardation, even including defects) 16 those children who are commonly considered to be Simple or non-specific. 362 Phenylketonuria 5 in the normal range of intelligence (e.g. with an I.Q. Gargoylism 2 Tuberous sclerosis 3 of 90 or 95), to the most severely incapacitated idiots Akinetic seizures with hypsarrhythmia developing in a with a level of intelligence so low that it was unscor- previously clinically normal child. 14 Post-natal Conditions (22) able. Many of those with a trivial degree of mental Sequelae of encephalitis 10 Post-infectious or post-immunization encephalomyelitis 8 retardation formed part of another study on the Pyogenic meningitis .. 2 predictive value of developmental tests in infancy Trauma. Cerebral vein thrombosis l (Illingworth, 1959). They may not necessarily be Uncertain Category (13) Degenerative conditions of the brain (including two of Von representative of mentally retarded children and Bogaert's syndrome). 13 those with cerebral palsy as a whole, but it is difficult to think of any reason why the series to be discussed * Excluding cerebral palsy. 228 Arch Dis Child: first published as 10.1136/adc.34.175.228 on 1 June 1959. Downloaded from CONGENITAL ANOMALIES 229 for instance, and in children who developed nor- and retrolental fibroplasia, have not been included. mally for five or six months and then suddenly The list includes 19 children, one with a cleft palate, deteriorated with a simultaneous development of five with serious eye conditions, and one with con- akinetic seizures ('hypsarrhythmia') was thought genital heart disease. Details of these children likely to be of pre-natal origin. As it happens, none cannot be given here, because space will not permit. of these children in either group had any associated In contrast to Table 3, Table 4 shows the in- anomalies. cidence of associated anomalies in the 386 children For the purposes of this study, I have included only those children in whom the defect was thought TABLE 3 to be of pre-natal or natal origin. Mongolism being CEREBRAL PALSY: ASSOCIATED CONDITIONS OR SYNDROMES IN PRE-NATAL OR NATAL FORMS (19) a separate entity, and the associated anomalies found in mongolism being well known, the 79 Pierre Robin syndrome with spina bifida, abnormal toes, examples of this condition are not analysed separ- congenital pyloric stenosis and spastic quadriplegia.. Cataract, hepatosplenomegaly, spastic quadriplegia and con- ately, except only for the incidence of congenital vulsions. Congenital heart disease with transposition of the viscera, heart lesions (16 in 79 children). This is, therefore, athetosis and convulsions a study of 278 children with cerebral palsy and 386 Optic atrophy with syndactyly, mental deficiency and athetosis Optic atrophy (including two with convulsions) 6 children with mental retardation. Retinal changes with convulsions, hemiplegia and mental 1 deficiency 21 Aplastic or hypoplastic anaemia. 3 Results Lipoidosis with a mixed form of cerebral palsy and con- vulsions The incidence of associated congenital anomalies Steatorrhoea with athetosis and mental deficiency Precocious puberty with convulsions, mental deficiency and in the 278 children with cerebral palsy is shown in hemiplegia Precocious puberty, spastic quadriplegia, retrolental fibroplasia Table 3. Defects of hearing and defects of vision, and convulsions. other than cataract, optic atrophy, choroidoretinitis TABLE 4 MENTAL RETARDATION WITHOUT CEREBRAL PALSY, ASSOCIATED CONDITIONS OR SYNDROMES IN PRE-NATAL OR NATAL FORMS, EXCLUDING MONGOLISM copyright. Cardiovascular Anomalies (4) Congenital Obliteration ofBile Ducts .1. I Congenital heart disease alone 4 Steatorrhoea (including one with convulsions). 3 Cranial Anomalies (13) Amino-aciduria with Convulsions Hypertelorism (includes one with megalencephaly) 4 Ichthyosis.1 Craniostenosis .. .. 2 Miscellaneous Syndromes (27) Abnormalshape (excludingmicrocephaly, simple asymmetry, Micrognathia, talipes, divarication of the recti, incurving little and flat occiput) 5 finger Frontal hyperostosis 1 Micrognathia, optic atrophy, congenital heart disease, talipes, Abnormal shape, with abnormally small interpupillary microcephaly, torticollis, congenital abnormality of cervical distance spine, branchial fistula, congenital dermal sinus, cranial abnor- Facial Anomaly (1) mality, convulsions http://adc.bmj.com/ Beaked nose and peculiar facies Micrognathia, permanent facial palsy, severe foot deformity Ocular Anomalies (16) Cleft palate, syndactyly, incurved little finger, epicanthus Optic atrophy (includes two with convulsions) 9 Linear naevi, choroidoretinitis, kyphoscoliosis, optic atrophy, Retrolental fibroplasia craniostenosis, prolonged middle finger Choroidoretinitis with convulsions. Linear and diffuse pigmented naevi, valgus deformity of foot, Bilateral cataract splenomegaly, optic atrophy, frontal hyperostosis, congenital Congenital nystagmus dermal sinus, hypertrophied middle finger of each hand Buphthalmos Optic atrophy with congenital dislocation of hip and convulsions Cerebromacular degeneration with convulsions Optic atrophy with scoliosis and convulsions Coloboma with convulsions. Optic atrophy with deafness and convulsions Skeletal Anomalies (7) Optic atrophy, enophthalmus, congenital heart disease, hypotonia Chondrodystrophy and convulsions Congenital stippled epiphyses Optic atrophy, congenital heart disease, extensive naevoid forma- on September 24, 2021 by guest. Protected Gross dwarfism. tion, congenital defect of kidney Congenital fusion of radius and ulna Cataract, congenital heart disease and hypospadias Congenital absence of radius Congenital paralysis of the right internal rectus muscle of the eye, Congenital dislocation of hip with talipes Syndactyly Severe strabismus with high arched palate and convulsions Musculoskeletal and Neuromuscularu.. (9) Choroidal degeneration with deafness Congenital hypotonia (includes one with convulsions) Spasmus nutans Congenital facial diplegia (Mobius syndrome) Rubella syndrome (cataract and congenital heart disease) with Congenital bulbar palsy ichthyosis Myasthenia gravis Arachnodactyly, hypertelorism, congenital intestinal obstruction Myopathy Arachnodactyly and deafness Cleft Palate (7) Lobster hand Alone (includes two with convulsions) 6 Hypotonia, deafness and deformity of the ears With micrognathia (Pierre Robin syndrome) 1 Hypotonia, steatorrhoea, strabismus, hepatic dysfunction, peculiar Deafness (severe). facies Anaemia (3) Congenital heart disease