Original artiele 151
Catamnestic Investigations in Children with Congenital Hydrocephalus Th. A. Angerpointner, L. Pockrandt, KI. Schroer Paediatric Surgical Clinic (Dir.: Prof. Dr. W. Ch. Hecker), Dr. von Haunersches Kinderspital of the University of Munieh, Lindwurmstr. 4, Munich 2, F.R.G.
Catamnestic investigations on the course of pregnancy, family history and genetics were carried out in 141 children suffering from congenital hydrocephalus. The results were compared with those obtained from a group of non-malformed controls investigated by the same criteria. There was a considerably higher incidence of pregnancy disturbances (Le. diseases, drugs, haemorrhage etc.) in mothers who later gave birth to a child with congenital hydrocephalus, than mothers of the control group (congenital hydrocephalus: 61.3% vs. controls: 30.1 %). This high incidence of pregnancy disturbances could be particularly referred to a sevenfold increased rate of diseases and a fourfold increased rate of drug intake during the first trimester. There was also a higher rate of malformed relatives in children with congenital hydrocephalus (16.7 %) than in controls (6.4 %); not only were malformations of the central nervous system found to be increased but also malformations of other organ systems in relatives. This is interpreted as a hint not only at genetic influences but also at a generally higher incidence of malformations in a relatively small group of persons. Calculated figures of recurrence risk were in accordance with empirical data used in genetic counselling. Key words Congenital hydrocephalus course - Family history - Genetics
Pregnancy
Katamnestische Untersuchungen bei Kindern mit angeborenem Hydrozephalus Es wurden katamnestische Untersuchungen zum Schwangerschaftsverlauf, der Familienanamnese und Genetik bei 141 Kindern mit kongenitalem Hydrozephalus durchgeführt. Die Ergebnisse wurden mit einem KontrollKollektiv von nichtfehlgebildeten Kindern, die nach den selben Kriterien untersucht wurden, verglichen. Es fand sich eine erheblich erhöhte Häufigkeit von Schwangerschaftsstörungen (Erkrankungen, Medikamente, Blutungen, Rauchen etc.) bei Müttern mit Spina-bifida-Kindern gegenüber den Müttern der Kontroll-Gruppe (Hydrozephalus-Gruppe: 61,3 %; Kontrollen: 30,1 0/0). Das häufige Auftreten von Schwangerschaftsstörungen war vor allem auf eine um das 7fache erhöhte Erkrankungshäufigkeit und eine um das 4fache erhöhte Häufigkeit von Medikamenten-Einnahme während der ersten Schwangerschafts-Trimenons zurückzuführen. Es fand sich auch eine höhere Häufigkeit von fehlgebildeten Verwandten bei Kindern mit kongenitalem Hydrozephalus (16,7%) als bei den Kontrollen (6,40/0), wobei nicht nur Fehlbildungen des ZNS, sondern auch Fehlbildungen anderer Organsysteme häufiger auftraten. Dies kann nicht nur als Hinweis auf genetische Faktoren, sondern auch auf eine allgemein höhere Fehlbildungs-Suszeptibilität in einem relativ kleinen Personenkreis verstanden werden. Die berechneten Häufigkeiten des Wiederholungsrisikos standen in Einklang mit den empirischen Daten, die bei der genetischen Beratung Verwendung finden. Schlüsselwörter Kongenitaler Hydrozephalus - Schwangerschaftsverlauf - Familienanamnese - Genetik
Introduction CNS malformations are among the most common malformations. Whereas the symptomatology of congenital hydrocephalus is very uniform, a large variety of causes is responsible for enlarged ventricles and increased head circumference present at birth. In a retrospective study we investigated our patients operated on for congenital hydrocephalus to obtain some hints at aetiological influences from the course of pregnancy and family history. Spina bifida was excluded as cause of congenital hydrocephalus and investigated in aseparate study. Received August 1, 1988 Z Kinderchir 45 (1990) 151-155 C Hippokrates Verlag Stuttgart
Material and method The medical charts of 141 children operated on for congenital hydrocephalus at the Paediatric Surgical Clinic of the Dr. von Haunersches Kinderspital of the University of Munich were reviewed. Additionally, detailed questionnaires concerning course of pregnancy, genetics, family history and epidemiology were sent to their parents. Return rate was 91 questionnaires (64.5%). Spina bifida patients were excluded and studied in aseparate investigation. 537 non-malformed children who had undergone an appendicectomy served as cOßtrols and were studied by identical criteria. Return rate in controls was 325 questionnaires (60.5O;(»). Since additional data were taken from the medical charts, the total number (100%) varied from point to point of investigation and usually exceeded the number of returned questionnaires. Data were processed
Downloaded by: National University of Singapore. Copyrighted material.
Summary
Th. A. Angerpointner et al
Z Kinderchir 45 (1990)
and evaluated by means of a mass data programme (23) and compared by statistical standard procedures in both groups. Wherever possible, data of average figures in Bavaria, compiled by the Bayerisches Statistisches Landesamt, Munich, were used for comparison. Results General survey Patient (n
= 141)
Sex ratio Congenital hydrocephalus was equally distributed among both sexes (76 males = 53.9%; 65 females 46.] %) Cause ofcongenital hydrocephalus Dandy-Walker malformation 9 (6.40/0), aqueductal stenosis 8 (5.70/0), other brain malformations 18 (12.8 %), intrauterine infections 6 (4.3 %), congenital brain tumours 2 (1.4 %), syndromes 7 (0.50/0). In 91 instances the aetiology of hydrocephalus remained unclear (64.50/0). Lethality 18 patients (12.8 0/0) died postoperatively, 9 of them during the first month of life (50.0 0/0) and 13 (72.2 0/0) during the first six months of life. Birth rank Birth rank did not differ from that of controls and the average birth rank of children in Bavaria. Seasonality ofbirth dates Neither children with congenital hydrocephalus nor controls exhibited seasonal variations in their birth dates. Date ofbirth Dates of birth are shown in Table 1. Children with congenital hydrocephalus were more often premature than controls and newborn in Bavaria (p < 0.0005). Birth weight and size Accordingly, their birth weights and sizes were below those of newborn in Bavaria (p < 0.05; Table 2). Associated malfonnations (spina bifida excluded) 42 children (29.8 %) had 64 associated malformations: feet deformities 8, other malformations of the extremities 7, syndromes 8, congenital heart disease 6, orofacial clefts 6, urogenital tract 5, eyes 5, bowel 4, oesophagus 3, vessels 2, other CNS malformations 2, neck 4, hip joint 2, abdominal wall 1, others 1. M alformation related diseases 25children (17.7%) suffered from malformation related diseases (Le. seizures, paralysis, statomental retardation, amaurosis etc.).
Twinning There were two concordant, monozygotic twins with congenital hydrocephalus in our series. No evidence of pregnancy disturbances or malformations in relatives. Elevated parental age (mother 37 yrs, father 42). The remaining 6 twins of the series were dizygotic and discordant.
Tab. 1
Date of bi rth. Congenital hydrocephalus (n = 130)
Controls (n = 408)
Bavaria·
Mature (40 ± 2 gestational weeks)
80 (61.5 %)
357 (87.5 %)
90.1 %
Premature (Iess than 38 weeks)
50 (38.5 %)
51 (12.5 %)
9.9 %
Chi-2 with respect to controls and Bavaria
p 0.0005
Maturity
• Münchener Perinatalstudie 1975; Schriftenreihe (Band VII) des Zentralinstitutes fgr die kassen3rztliche Versorgung in der BR Deutschland. Deutscher Arzteverlag, Köln 1977
Mother Malformations (n = 137) 3 mothers (2.20/0) had a malformation (internal ear 1, urogenital tract 1, chondrodystrophy 1). Age (n = 135) Maternal age did not differ from maternal age in the control group or average maternal age distribution in Bavaria. Pregnancy disturbances - total (n = 106) Pregnancy disturbances in total (i.e. diseases, drugs, smoking, haemorrhage, x·rays, anaesthesia, accidents etc.) were considerably higher (65 = 61.3%) in mothers of hydrocephalic children than in mothers of the nonmalformed control group (113 = 30.1 %; p < 0.0005). Diseases during pregnancy (n = 106) 39 out of 106 women (36.8 %) reported diseases during pregnancy (controls: 26 = 7.9%; p < 0.0005); in 28 instances (26.4 %) the disease occurred in the first pregnancy trimester (controls: 13 = 3.9%; p
Catamnestic Investigations in Children with Congenital Hydrocephalus Th. A. Angerpointner, L. Pockrandt, KI. Schroer Paediatric Surgical Clinic (Dir.: Prof. Dr. W. Ch. Hecker), Dr. von Haunersches Kinderspital of the University of Munieh, Lindwurmstr. 4, Munich 2, F.R.G.
Catamnestic investigations on the course of pregnancy, family history and genetics were carried out in 141 children suffering from congenital hydrocephalus. The results were compared with those obtained from a group of non-malformed controls investigated by the same criteria. There was a considerably higher incidence of pregnancy disturbances (Le. diseases, drugs, haemorrhage etc.) in mothers who later gave birth to a child with congenital hydrocephalus, than mothers of the control group (congenital hydrocephalus: 61.3% vs. controls: 30.1 %). This high incidence of pregnancy disturbances could be particularly referred to a sevenfold increased rate of diseases and a fourfold increased rate of drug intake during the first trimester. There was also a higher rate of malformed relatives in children with congenital hydrocephalus (16.7 %) than in controls (6.4 %); not only were malformations of the central nervous system found to be increased but also malformations of other organ systems in relatives. This is interpreted as a hint not only at genetic influences but also at a generally higher incidence of malformations in a relatively small group of persons. Calculated figures of recurrence risk were in accordance with empirical data used in genetic counselling. Key words Congenital hydrocephalus course - Family history - Genetics
Pregnancy
Katamnestische Untersuchungen bei Kindern mit angeborenem Hydrozephalus Es wurden katamnestische Untersuchungen zum Schwangerschaftsverlauf, der Familienanamnese und Genetik bei 141 Kindern mit kongenitalem Hydrozephalus durchgeführt. Die Ergebnisse wurden mit einem KontrollKollektiv von nichtfehlgebildeten Kindern, die nach den selben Kriterien untersucht wurden, verglichen. Es fand sich eine erheblich erhöhte Häufigkeit von Schwangerschaftsstörungen (Erkrankungen, Medikamente, Blutungen, Rauchen etc.) bei Müttern mit Spina-bifida-Kindern gegenüber den Müttern der Kontroll-Gruppe (Hydrozephalus-Gruppe: 61,3 %; Kontrollen: 30,1 0/0). Das häufige Auftreten von Schwangerschaftsstörungen war vor allem auf eine um das 7fache erhöhte Erkrankungshäufigkeit und eine um das 4fache erhöhte Häufigkeit von Medikamenten-Einnahme während der ersten Schwangerschafts-Trimenons zurückzuführen. Es fand sich auch eine höhere Häufigkeit von fehlgebildeten Verwandten bei Kindern mit kongenitalem Hydrozephalus (16,7%) als bei den Kontrollen (6,40/0), wobei nicht nur Fehlbildungen des ZNS, sondern auch Fehlbildungen anderer Organsysteme häufiger auftraten. Dies kann nicht nur als Hinweis auf genetische Faktoren, sondern auch auf eine allgemein höhere Fehlbildungs-Suszeptibilität in einem relativ kleinen Personenkreis verstanden werden. Die berechneten Häufigkeiten des Wiederholungsrisikos standen in Einklang mit den empirischen Daten, die bei der genetischen Beratung Verwendung finden. Schlüsselwörter Kongenitaler Hydrozephalus - Schwangerschaftsverlauf - Familienanamnese - Genetik
Introduction CNS malformations are among the most common malformations. Whereas the symptomatology of congenital hydrocephalus is very uniform, a large variety of causes is responsible for enlarged ventricles and increased head circumference present at birth. In a retrospective study we investigated our patients operated on for congenital hydrocephalus to obtain some hints at aetiological influences from the course of pregnancy and family history. Spina bifida was excluded as cause of congenital hydrocephalus and investigated in aseparate study. Received August 1, 1988 Z Kinderchir 45 (1990) 151-155 C Hippokrates Verlag Stuttgart
Material and method The medical charts of 141 children operated on for congenital hydrocephalus at the Paediatric Surgical Clinic of the Dr. von Haunersches Kinderspital of the University of Munich were reviewed. Additionally, detailed questionnaires concerning course of pregnancy, genetics, family history and epidemiology were sent to their parents. Return rate was 91 questionnaires (64.5%). Spina bifida patients were excluded and studied in aseparate investigation. 537 non-malformed children who had undergone an appendicectomy served as cOßtrols and were studied by identical criteria. Return rate in controls was 325 questionnaires (60.5O;(»). Since additional data were taken from the medical charts, the total number (100%) varied from point to point of investigation and usually exceeded the number of returned questionnaires. Data were processed
Downloaded by: National University of Singapore. Copyrighted material.
Summary
Th. A. Angerpointner et al
Z Kinderchir 45 (1990)
and evaluated by means of a mass data programme (23) and compared by statistical standard procedures in both groups. Wherever possible, data of average figures in Bavaria, compiled by the Bayerisches Statistisches Landesamt, Munich, were used for comparison. Results General survey Patient (n
= 141)
Sex ratio Congenital hydrocephalus was equally distributed among both sexes (76 males = 53.9%; 65 females 46.] %) Cause ofcongenital hydrocephalus Dandy-Walker malformation 9 (6.40/0), aqueductal stenosis 8 (5.70/0), other brain malformations 18 (12.8 %), intrauterine infections 6 (4.3 %), congenital brain tumours 2 (1.4 %), syndromes 7 (0.50/0). In 91 instances the aetiology of hydrocephalus remained unclear (64.50/0). Lethality 18 patients (12.8 0/0) died postoperatively, 9 of them during the first month of life (50.0 0/0) and 13 (72.2 0/0) during the first six months of life. Birth rank Birth rank did not differ from that of controls and the average birth rank of children in Bavaria. Seasonality ofbirth dates Neither children with congenital hydrocephalus nor controls exhibited seasonal variations in their birth dates. Date ofbirth Dates of birth are shown in Table 1. Children with congenital hydrocephalus were more often premature than controls and newborn in Bavaria (p < 0.0005). Birth weight and size Accordingly, their birth weights and sizes were below those of newborn in Bavaria (p < 0.05; Table 2). Associated malfonnations (spina bifida excluded) 42 children (29.8 %) had 64 associated malformations: feet deformities 8, other malformations of the extremities 7, syndromes 8, congenital heart disease 6, orofacial clefts 6, urogenital tract 5, eyes 5, bowel 4, oesophagus 3, vessels 2, other CNS malformations 2, neck 4, hip joint 2, abdominal wall 1, others 1. M alformation related diseases 25children (17.7%) suffered from malformation related diseases (Le. seizures, paralysis, statomental retardation, amaurosis etc.).
Twinning There were two concordant, monozygotic twins with congenital hydrocephalus in our series. No evidence of pregnancy disturbances or malformations in relatives. Elevated parental age (mother 37 yrs, father 42). The remaining 6 twins of the series were dizygotic and discordant.
Tab. 1
Date of bi rth. Congenital hydrocephalus (n = 130)
Controls (n = 408)
Bavaria·
Mature (40 ± 2 gestational weeks)
80 (61.5 %)
357 (87.5 %)
90.1 %
Premature (Iess than 38 weeks)
50 (38.5 %)
51 (12.5 %)
9.9 %
Chi-2 with respect to controls and Bavaria
p 0.0005
Maturity
• Münchener Perinatalstudie 1975; Schriftenreihe (Band VII) des Zentralinstitutes fgr die kassen3rztliche Versorgung in der BR Deutschland. Deutscher Arzteverlag, Köln 1977
Mother Malformations (n = 137) 3 mothers (2.20/0) had a malformation (internal ear 1, urogenital tract 1, chondrodystrophy 1). Age (n = 135) Maternal age did not differ from maternal age in the control group or average maternal age distribution in Bavaria. Pregnancy disturbances - total (n = 106) Pregnancy disturbances in total (i.e. diseases, drugs, smoking, haemorrhage, x·rays, anaesthesia, accidents etc.) were considerably higher (65 = 61.3%) in mothers of hydrocephalic children than in mothers of the nonmalformed control group (113 = 30.1 %; p < 0.0005). Diseases during pregnancy (n = 106) 39 out of 106 women (36.8 %) reported diseases during pregnancy (controls: 26 = 7.9%; p < 0.0005); in 28 instances (26.4 %) the disease occurred in the first pregnancy trimester (controls: 13 = 3.9%; p
