Apple peel intestinal atresia in siblings with ... - Wiley Online Library

8 downloads 210686 Views 339KB Size Report
shortened and coiled small intestine resembling an apple peel. This condition, which may account for approximately 5% of all intestinal atresias (Weitz-.
Copyright

Clin Genet 1993: 44: 208-210 Printed in Denmark . AN rights reserved

0 Munksgaard 1993

CLINICAL GENETICS ISSN 0009-9163

Apple peel intestinal atresia in sibhgs with ocular anomalies and microcephalv -

J

Strermme P, Dahl E, Flage T, Stene-Johansen H. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Clin Genet 1993: 44: 208-210. 0Munksgaard, 1993

Petter Stremme’, Eilif Dahl*, Tor Flags’ and Helge Stened~hansen~

Two siblings who presented shortly after birth with signs of upper intestinal obstruction were successfully operated for apple peel jejunal atresia. In addition to intestinal malformations, both siblings exhibited severe microcephaly and ocular abnormalities not previously reported in this condition.

‘Centre for Mental Retardation, Department of Paediatrics, *Section for Paediatric Surgery, Department of Surgery and 3Department of Ophthalmology, Rikshospitalet, Oslo and ‘Department of Paediatrics, Rogaland Central Hospital, Stavanger. Norway

-

Key words: apple peel autosomal recessive jejunal atresia - microcephaly microphthalmia - sclerowrnea Petter Stremme MR Centre for Mental Retardation, Department of Paediatrics. Rikshospitalet, 0027, Oslo, Norway Received 5 February, revised version received and accepted 14 May 1993

The term “apple peel” atresia was first applied by Santulli & Blanc in 1961 when they described a shortened and coiled small intestine resembling an apple peel. This condition, which may account for approximately 5% of all intestinal atresias (Weitzman & Vanderhoof 1966), is sometimes referred to as intestinal atresia type IIIb or type 4 (de Sa 1991). It is often familial and an autosomal recessive mode of inheritance has been suggested (Blyth & Dickson 1969, Seashore et al. 1987). In contrast to other forms of intestinal atresia, associated anomalies are rather infrequent. We describe two siblings with apple peel jejunal atresia in the presence of microcephaly and ocular anomalies. Case reports Patient 1

Patient 1 was the first child of healthy, unrelated normocephalic parents. She was born after 35 weeks of uncomplicated pregnancy with a head circumference of 30 cm (below the 10th centile); length was 43 cm (10th centile) and weight 2390 g (50th centile). Shortly after birth she presented with bilious vomiting and a barium roentgenogram 208

showed upper jejunal obstruction. An immediate laparot omy disclosed intestinal malrota tion with several atresias of the jejunum (Fig. l), which was coiled like an apple peel. An end-to-end anastomosis between the proximal jejunum and distal ileum was performed, leaving 30-35 cm viable small bowel. Her recovery was slow, but after 27 months she was in good general health (Fig. 2), although frequent foul-smelling stools indicated some degree of a short bowel syndrome. She was microcephalic with a head circumference of 40 cm (6 cm below the 2.5th centile); length was 76 cm (3 cm below the 2.5th centile) and weight was 8.4 kg (10th centile). Examination of her right eye at 2 weeks and at the present age revealed the following ocular abnormalities: microphthalmia with microcornea and general corneal clouding without distinct corneoscleral limbus, shallow anterior chamber, epicanthus, esotropia and an irregular and dilated pupil. The red reflex was diminished and fundoscopy was not possible due to corneal clouding. The left eye was structurally normal and there were no signs of intraocular infection. Flash ERG and VEP from both eyes were normal.

A new syndrome with apple peel atresia

Fig. I. Apple peel malformation and atretic segments (arrows)

of the small intestine.

Fig. 2. Right-sidedmicrophthalmia in the elder sister and microcephaly in both siblings.

Evaluation with Griffiths Mental Developmental Scales showed retardation of eye-hand coordination corresponding to the 20-month level, while performance (problem-solving tasks) reached the 22-month level. Cerebral computed tomography, electroencephalography, ultrasound of the kidneys and bone age were normal. A barium meal revealed some dilatation of the proximal jejunum, with normal passage of contrast medium through all parts of the intestine. She had a normal karyotype 46,XX. Patient 2

Patient 2 was the younger sister of Patient 1 and was born after 36 weeks of uncomplicated pregnancy. Head circumference was 30 cm (below the 10th centile); length was 46 cm (25th centile) and weight 2800 g (50th centile). Shortly after birth she presented with bilious vomiting and a barium roentgenogram showed ventricular and duodenal

dilatation suggesting small bowel obstruction. An immediate laparotomy disclosed several atretic segments of jejunum, which was coiled in an apple peel fashion, while the colon was malrotated. An end-to-end anastomosis was performed, leaving 35-40 cm viable small bowel. Her recovery was uneventful and at 5f. months of age (Fig. 2), she was without any gastrointestinal symptoms. She was microcephalic with a head circumference of 36 cm (4 cm below 2.5th centile); length was 61 cm (2.5th centile) and weight 5950 g (25th centile). Examination of her left eye at 2 weeks and at the present age revealed a corneal opacity which had the character of a partial sclerocornea with the opacity continuing from the sclera into the cornea in the upper nasal quadrant. The opacity did not reach the central part of the cornea, and presumably would not affect the development of vision. She had bilateral epicanthus. Her eyes were otherwise structurally normal and there were no signs of intraocular infection. Evaluation with Griffiths Mental Development Scales showed mild problems with eye-hand coordination, while all other psychomotor functions were either at, or slightly above average for her age. Cerebral computed tomography, electroencephalography, ultrasound of the kidneys and bone age were normal. A barium meal showed normal passage of contrast medium through all parts of the intestine. Her karyotype was normal 46,XX. Discussion

Associated anomalies occur in 15% of cases of apple peel intestinal atresia (Seashore et al. 1987). Central nervous system involvement is rare and has only been reported as single cases of spina bifida (Dickson 1970) and microcephaly (Ros Mar et al. 1980). Mental retardation, so common in other congenital malformation syndromes, has not been described with this syndrome. As microcephaly is a strong predictor for mental retardation (Nelson & Deutschberger 1970, Martin 1970, Dolk 1991), one would have expected our patients to have shown some degree of developmental delay. However, psychometric testing revealed only difficulties with performance and eye-hand coordination; the latter is probably attributable to abnormalities of the anterior segments of the eye interfering with vision. Sclerocornea is a primary anomaly with a partial or general scleralization of the cornea (Elliott et al. 1985). The anomaly may coexist with microphthalmia. A search in the dysmorphology database POSSUM for syndromes featuring sclerocornea and microcephaly resulted in 43 matches, 209

Strnmme et al.

none of which fitted the description of our two patients. Thompson & Winter (1988) reported a child with sclerocornea, microphthalmia, facial dysmorphism and short stature, without intestinal atresia. Microphthalmia was described in a girl with karyotype 13q - and extensive intestinal atresia (Nishikawa et al. 1985), but she did not appear to have true apple peel malformation. The occurrence of identical malformations in two children of healthy parents is most likely to be due to autosomal recessive inheritance, although germline mosaicism of a dominant gene in either parent is a possibility (Hall 1988). Although Patient l had mild signs of a short bowel syndrome, the genetic defect, rather than malabsorption, could explain her short stature. Intestinal obstruction due to apple peel atresia may be detected with prenatal ultrasound (Fletman et al. 1980). Serial measurements of the fetal bitemporal diameter would be of particular importance in diagnosing this syndrome in our family. It seems likely that the siblings represent a new syndrome of apple peel intestinal atresia with ocular anomalies, short stature and pronounced microcephaly, so far without evidence of mental retardation. Acknowledgements We thank Anne Carling, Centre for Mental Retardation, Rikshospitalet, who performed the psychometric evaluation and Karen Helene 0rstavik, Department of Medical Genetics, Ullev4l Hospital, Oslo, who reviewed the manuscript.

210

References Blyth H, Dickson JAS. Apple peel syndrome. A family study of seven index patients. J Med Genet 1969; 6: 275-277. de Sa DJ. The alimentary tract; obstruction of the jejunum and ileum. In: Wigglesworth JS, Singer DB, eds. Textbook of fetal and perinatal pathology. Boston: Blackwell, 1991: 927-933. Dickson JAS. Apple peel small bowel: an uncommon variant of duodenal and jejunal atresia. J Pediatr Surg 1970: 5: 595-600. Dolk H. The predictive value of microcephaly during the first year of life for mental retardation at seven years. Dev Med Child Neurol 1991: 31: 974-983. Elliott JH, Feman SS, O’Day DM, Garber M. Hereditary sclerocomea. Arch Ophthaimol 1985: 103: 676-679. Fletman D, McQuown D, Kanchanapoom V, Gyepes MT. “Apple peel” atresia of the small bowel prenatal diagnosis of the obstruction by ultrasound. Pediatr Radio1 1980: 9: 118-1 19. Hall JG. Somatic mosaicism: observation in relation to clinical genetics. Am J Hum Genet 1988: 43: 355-363. Martin HP. Microcephaly and mental retardation. Am J Dis Child 1970: 119: 128-131. Nelson KB, Deutschberger J. Head size at one year as a predictor of four-year IQ. Dev Med Child Neurol 1970: 12: 487495.

Nishikawa A, Mitomori T, Matsuura A, Inoue A, Mori H, Takahashi M. A 13q- syndrome with extensive intestinal atresia. Acta Paediatr Scand 1985: 74: 305-308. Ros Mar Z, Diez Pardo JA, Ros Miguel M, Benavent I. Apple peel small bowel: a review of twelve cases. Z Kind Chir 1980: 29: 313-317.

Santulli Tv, Blanc WA. Congenital atresia of the intestine. Pathogenesis and treatment. Ann Surg 1961: 154: 939-948. Seashore JH, Collins FS, Markowitz RI, Seashore MR. Familial apple peel jejunal atresia; surgical, genetic and radiographic aspects. Pediatrics 1987: 80: 540-544. Thompson M, Winter RM. A child with sclerocornea, short limbs, short stature, and distinct facial appearance. Am J Med Genet 1988: 30: 719-724. Weitzman JJ, Vanderhoof RS. Jejunal atresia with agenesis of the dorsal mesentery. Am J Surg 1966; 11 1: 443-449.