J. ment. Defic. Res. (1975) 19, 63
SELF-MUTILATION IN A CASE OF 49.XXXXY CHROMOSOMAL CONSTITUTION J. J. KORTEN and A. VAN DORP The Observation Centre for Mental Defectives, "De Hondsberg", Oisterwij/c, The Netherlands TH. W. J. HUSTINX, J. M. J. SCHERES and F. J. RUTTEN Department of Human Genetics, Faculty of Medicine, Catholic University, J^ijmegen, The Netherlands
INTRODUCTION Since the first reports on a patient with a 49,XXXXY chromosome aberration (Fraccaro, Kaijser and Lindsten, 1960a; Fraccaro and Lindsten, 1960b) many cases with this anomaly have been described. Because of its unequivocal symptomatology the 49,XXXXY chromosome constitution has a prominent place among the syndromes with multiple X chromosomes (Hainerton, 1971; Tumba, 1972; Terheggen, PfeifTer, Haug, Hertl, Diggins and Schiinke, 1973). A case of this chromosomal aberration is reported. In addition to demonstrating a number of symptoms typical for this syndrome the patient's most outstanding trait is his self-mutilative behaviour. CASE REPORT The piopositus (E.K. 601005) was born in I960 as the third of six children of unrelated parents. The phenotypitally normal father and mother were thiity-three and twenty-nine years old respectively at the time of the boy's birth. Delivery was uneventful and at term. Birth weight was almost 2,500 g. In the post-natal period feeding difficulties occurred and psychomotor retardation was noticed (ability to sit at the age of two and to walk when four and a half years old). Examined when he was eight years old, his length was 114 cm. (P < 3) and his weight 19.6 kg. (3 < P < 10). His head circumference was 51 cm. When the examination was repeated at the age of 13.6 years his length was 144 cm. (P < 3), his weight 29.9 kg. {P < 3) and his head circumference 55 cm. His gait was straddling and lordotic. The abdomen was hypotunic and rounded, partially as a result of a diastasis of the rectus abdominis muscles. The neck was short. Hypertelorism was present and the nasal bridge was depressed and ilal (Fig. 1). The phillrum was short and the vermilion borders of the lips were extensive. The eruption of the permanent teeth had been about one year late. Growth of hair on his head was scarce. The boy had genua valga, genua recurvata and pedes plani. Pronation and supination of the fore-arms were not restricted. Reflex responses were hypoactive. Penis, scrotum and testicles were very small. Eacial expression was mask-like with occasional grimaces in the oral area. There was generally increased motor activity. Attention and concentration fluctuated strongly; however, there were no clear lapses of consciousness. Perception was mainly tactile-kinesthetic. The relationship wilh his environment was characterised by distrust and insecurity. With regard to oilier children a distinct rivalry existed for the attention of the nurses. He was little interested in events and people in his surroundings. However, a strong sensitivity for the mood of his environment could be observed. His disposition was rather depressive. His mental capacities Received 3rd July, 1974
64
XXXXY CHROMOSOMAL CONSTITUTION
Fig. I.
The patient at the age of 11.5 years.
were between idiocy and imbecility. He reacted aggressively when fiustratc-d or in stress situations, directing the aggression mainly towards himself by hitting his head hard with his fist. To protect himself against thi.s behaviour he usually hid his arms under his coat. On haloperidol and mepazine he developed a pronounced Parkinsonian syndrome. Extensive morphological and chemical examinations of blood and urine showed no abnormalities. Syphilis and toxoplasmosis tests were negative. The twenty four-hours' urinary excretion of vanilmandelic acid (VMA) and homovatiillic acid (HVA) were decreased below the lowest normal values, whereas the excretion of 5-hydroindoleacetic acid (5HIAA) was normal. The electroencephalogram showed an occipital alpha rhythm of 9 cps and voltages of 60-120 [iv (average 80 [iv). In addition to a somewhat increased theta activity, multiple cortical epileptic foci and bilateral synchronous spike-wave complexes of 3-4 per second were obsei-ved. X-ray examination showed a normal osseous maturation. There was no radio-ulnar synostosis. A large thymus was seen. The cranial sutures showed strong sclerosis.
Dermatoglyphic studies
Tables 1, 2 and 3 summarise the ridge-counts of the fingertips and the a-b ridge-counts of the palms. The ridge-counts of the distal loops on the liallucal areas were 11 and 8 for the left and right loot respectively. On the toes of the patient six whorls were found (the toes I, II and III on both sides), three fibular loops (the toes IV on both sides and the toe V on the right) and one arch (the toe V on the left).
J. J. KORTEN et al.
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SELF-MUTILATION IN A CASE OF 49.XXXXY CHROMOSOMAL CONSTITUTION J. J. KORTEN and A. VAN DORP The Observation Centre for Mental Defectives, "De Hondsberg", Oisterwij/c, The Netherlands TH. W. J. HUSTINX, J. M. J. SCHERES and F. J. RUTTEN Department of Human Genetics, Faculty of Medicine, Catholic University, J^ijmegen, The Netherlands
INTRODUCTION Since the first reports on a patient with a 49,XXXXY chromosome aberration (Fraccaro, Kaijser and Lindsten, 1960a; Fraccaro and Lindsten, 1960b) many cases with this anomaly have been described. Because of its unequivocal symptomatology the 49,XXXXY chromosome constitution has a prominent place among the syndromes with multiple X chromosomes (Hainerton, 1971; Tumba, 1972; Terheggen, PfeifTer, Haug, Hertl, Diggins and Schiinke, 1973). A case of this chromosomal aberration is reported. In addition to demonstrating a number of symptoms typical for this syndrome the patient's most outstanding trait is his self-mutilative behaviour. CASE REPORT The piopositus (E.K. 601005) was born in I960 as the third of six children of unrelated parents. The phenotypitally normal father and mother were thiity-three and twenty-nine years old respectively at the time of the boy's birth. Delivery was uneventful and at term. Birth weight was almost 2,500 g. In the post-natal period feeding difficulties occurred and psychomotor retardation was noticed (ability to sit at the age of two and to walk when four and a half years old). Examined when he was eight years old, his length was 114 cm. (P < 3) and his weight 19.6 kg. (3 < P < 10). His head circumference was 51 cm. When the examination was repeated at the age of 13.6 years his length was 144 cm. (P < 3), his weight 29.9 kg. {P < 3) and his head circumference 55 cm. His gait was straddling and lordotic. The abdomen was hypotunic and rounded, partially as a result of a diastasis of the rectus abdominis muscles. The neck was short. Hypertelorism was present and the nasal bridge was depressed and ilal (Fig. 1). The phillrum was short and the vermilion borders of the lips were extensive. The eruption of the permanent teeth had been about one year late. Growth of hair on his head was scarce. The boy had genua valga, genua recurvata and pedes plani. Pronation and supination of the fore-arms were not restricted. Reflex responses were hypoactive. Penis, scrotum and testicles were very small. Eacial expression was mask-like with occasional grimaces in the oral area. There was generally increased motor activity. Attention and concentration fluctuated strongly; however, there were no clear lapses of consciousness. Perception was mainly tactile-kinesthetic. The relationship wilh his environment was characterised by distrust and insecurity. With regard to oilier children a distinct rivalry existed for the attention of the nurses. He was little interested in events and people in his surroundings. However, a strong sensitivity for the mood of his environment could be observed. His disposition was rather depressive. His mental capacities Received 3rd July, 1974
64
XXXXY CHROMOSOMAL CONSTITUTION
Fig. I.
The patient at the age of 11.5 years.
were between idiocy and imbecility. He reacted aggressively when fiustratc-d or in stress situations, directing the aggression mainly towards himself by hitting his head hard with his fist. To protect himself against thi.s behaviour he usually hid his arms under his coat. On haloperidol and mepazine he developed a pronounced Parkinsonian syndrome. Extensive morphological and chemical examinations of blood and urine showed no abnormalities. Syphilis and toxoplasmosis tests were negative. The twenty four-hours' urinary excretion of vanilmandelic acid (VMA) and homovatiillic acid (HVA) were decreased below the lowest normal values, whereas the excretion of 5-hydroindoleacetic acid (5HIAA) was normal. The electroencephalogram showed an occipital alpha rhythm of 9 cps and voltages of 60-120 [iv (average 80 [iv). In addition to a somewhat increased theta activity, multiple cortical epileptic foci and bilateral synchronous spike-wave complexes of 3-4 per second were obsei-ved. X-ray examination showed a normal osseous maturation. There was no radio-ulnar synostosis. A large thymus was seen. The cranial sutures showed strong sclerosis.
Dermatoglyphic studies
Tables 1, 2 and 3 summarise the ridge-counts of the fingertips and the a-b ridge-counts of the palms. The ridge-counts of the distal loops on the liallucal areas were 11 and 8 for the left and right loot respectively. On the toes of the patient six whorls were found (the toes I, II and III on both sides), three fibular loops (the toes IV on both sides and the toe V on the right) and one arch (the toe V on the left).
J. J. KORTEN et al.
65
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