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Hydranencephaly in Association with Roberts Syndrome

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Hydranencephaly in Association with Roberts Syndrome LE JOURNAL CANAD1EN DES SCIENCES NEUROLOGIQUKS Hydranencephaly in Association with Roberts Syndrome CHRIS E. U. EKONG AND BOHDAN ROZDILSKY SUMMARY: A clinicopathological In 1919, Dr. John Roberts de­ perforate. Marked hypertelorism study in a case of Roberts syndrome (tet- scribed a brother and sister with tet- was noted. The head appeared nor­ raphocomelia, cleft lip and palate, and raphocomelia, cleft lip and palate, mal in size but the neck was short and phallic hypertrophy) is reported. This pa­ and phallic hypertrophy. This com­ stiff. The infant died a few minutes tient had hydranencephaly and imperfo­ bination of congenital abnormalities after birth. Family history revealed rate anus, two additional congenital ab­ has subsequently been named that the patient's mother's two sis­ normalities so far not reported in this ters had no children, as they spon­ syndrome. Roberts syndrome. Twenty-two similar cases have been reported taneously aborted during each preg­ RESUME: Nous rapportons Vetude (Appelt et al., 1966; Holmes et al., nancy. The patient's parents were clinico pathologique d'un cas de syn­ 1972; Freeman et al., 1974). not consanguineously related. drome de Roberts (tetraphocomelie, bee Other congenital anomalies in­ A post mortem total body radio­ de lievre et hypertrophic phallique). Ce clude cryptorchidism, patent ductus graph (Figure 2) revealed ox­ patient presentait egalement une arteriosus and foramen ovale, en- ycephalic calvarium. The tubular hydranencephalie et tin anus non perfore cephalocele, polycystic kidneys, bones of the upper and lower ex­ — deux anomalies congenitales non horse-shoe kidneys and deformity of tremities were moderately well de­ prealablement connues dans ce syn­ base of skull and cribriform plate veloped, but were short compared to drome. (Holmes etal., 1972). Two cases with the body size. hydrocephalus and one of spina bifida of lumbar vertebrae (Freeman et al., 1974) have also been reported PATHOLOGY and those surviving longer than a few The scalp appeared normal. The weeks were all mentally retarded. skull was fairly well developed, apart We are reporting a case of Roberts from the fact that the posterior fossa syndrome with hydranencephaly and was not formed at all and the parietal imperforate anus as additional de­ bones were widely separated from velopmental anomalies. CASE REPORT Baby H was the first pregnancy for an 18 year old mother. The pre­ gnancy was uneventful. The only medications she took during the ges­ tation were iron and calcuim tablets. She was delivered by caesarean sec­ tion because of fetal distress in the forty-second week of pregnancy. Hydramnios was evident at the caesarean section and a grossly ab­ normal baby weighing 1.5 kg (Figure 1) was delivered. It had a cleft lip and palate with protrusion of the premax- illa. The sex could not be determined grossly as the phallus was hyper- trophied and there was no scrotum, labia, or testicles. The forearms and legs were short and emerged directly From the Division of Neuropathology, University from the trunk, giving an impression Hospital, Saskatoon, Canada. of tetraphocomelia. The hands and Reprint requests to: Dr. Chris Ekong, Department of feet were replaced with fluid-filled Neurosciences, University of Saskatchewan, Saska­ Figure I—Photograph of the case of toon, Canada S7N 0W8. cystic structures. The anus was im­ Roberts syndrome shortly after death. Vol. 5, No. 2 MAY 1978 - 253 Downloaded from https://www.cambridge.org/core. IP address: 170.106.33.14, on 25 Sep 2021 at 12:35:50, subject to the Cambridge Core terms of use, available at https://www.cambridge.org/core/terms. https://doi.org/10.1017/S0317167100024628 THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES retrieved from the sella. The mem­ the sella was made up of epithelial- branous wall of the cyst (Figure 4) like cells arranged in glandular pat­ (without the fluid) weighed 8 Gm. tern with normal proportion of Representative coronal sections of eosinophilic cells, and was compati­ the membranous wall of the cyst ble with the pituitary gland. The were made. Horizontal sections of diagnosis of hydranencephaly was the tissue, believed to be the brain made. stem, and sections from the tissue Additional findings at autopsy in­ from the sella, were also made. The cluded right renal and ureteric membrane varied in thickness from agenesis. No testicular, ovarian, 0.5 mm over the convexities to 3 mm uterine or vaginal structures were at the base, corresponding to the identifiable. The thyroid, thymus, hypoplastic basal ganglia and heart and great vessels, lungs, diencephalon. In most areas it con­ esophagus, intestines, liver, sisted of a sparsely cellular lep- gallbladder and spleen were all nor­ tomeninx externally, a thin cerebral mal. The urinary bladder appeared tissue made up of a densely cellular grossly normal, but showed slight outer part, and a less cellular inner eosinophilic cystitis. part, lined in most parts by epen- dyma. The cells of the cerebral tissue COMMENT were poorly differentiated and The syndrome of tetraphocomelia, neurons could not be identified (Fig­ cleft lip and palate, and phallic hyper­ Figure 2—Total body radiograph of this ure 5). trophy (Roberts syndrome) is a rare case, taken shortly after death. Ox­ congenital abnormality (Freeman et ycephalic calvarium, scoliosis, and The histological appearance of the fairly well formed but short tubular most distal part of the brain stem was al., 1974). Most of the reported cases bones are noted. consistent with that of embryonic have been sporadic, but Holmes et al. midbrain. The aqueduct was well (1972) and Freeman etal. (1974) have each other and from the frontal bone. formed and lined by ependymal cells. proposed autosomal recessive mode The dura was firmly attached to the The parenchyma was made up of of inheritance. Seven of the previ­ skull and underlying it was a large poorly differentiated glia. The more ously reported cases were females, cyst (Figure 3) containing 215 cc of proximal part of the brain stem was 14 were males and in one, the sex was clear colorless fluid. The cerebellum compatible with the pons and undetermined. Chromosomal studies was not seen. The spinal cord was medulla. Here, although the paren­ in one patient showed no abnormality seen emerging from the foramen chyma was poorly differentiated, a (Freeman et al., 1974), but Appelt et magnum and extending for about 1 few neurons, representing cranial al. (1966) have reported one female cm into the cranium, forming the nerve nuclei, were identified. The patient with a single sex chromatin brain stem and the stalk of the cyst. A ependymal lining of the central canal body. (Chromosomal studies were round nodule about 3 mm in diame­ of the medulla and the 4th ventricle not done in our case.) It would appear ter, believed to be the pituitary, was were well formed. The tissue from that whatever the genetic abnormal- *0<m* Figure 3— Photograph of the head with the dura opened and the Figure 4—Photograph of the hypoplastic brain. The thicker, cyst ruptured. The dura is held with a pair of forceps and the more central areas are the region of the basal ganglia. collapsed membranous wall of the cyst is seen in the floor of the intracranial cavity after it was emptied of its content. 254 - MAY 1978 Hydranencephaly and Roberts Syndrome Downloaded from https://www.cambridge.org/core. IP address: 170.106.33.14, on 25 Sep 2021 at 12:35:50, subject to the Cambridge Core terms of use, available at https://www.cambridge.org/core/terms. https://doi.org/10.1017/S0317167100024628 LE JOURNAL CANADIEN DES SCIENCES NEUROLOG1QUES viously reported cases, six were still­ respectively. Appelt et al. (1966) born, six survived for only a few mentioned hydrocephalus in their days, two for less than one year, and case. It is our impression that these one for two years. Only three were patients all have maldevelopment of alive at the the time of report the nervous system, resulting in their (Freeman et al., 1974). They were mental retardation. This seems to aged 11 years, eight years and two vary from mere hydrocephalus as in months. the cases of Freeman et a. (1974) to There is very little information hydranencephaly, as in our patient. about the nervous system in these patients. The longest survivor of this syndrome was described as semicon­ ACKNOWLEDGEMENTS scious, responding quietly to his par­ The authors are grateful to Dr. E. W. ents and violently to unfamiliar ex­ Schmidt, the attending obstetrician in charge aminers, but not communicating of this case, for permission to report the case. otherwise (Freeman et al., 1974). This status did not change signific­ antly even at the age of eleven years. REFERENCES APPELT, H.. GERKEN. H., and LENZ. W. He was also brachycephalic. One of (1966). Tetraphokomelie mit Lippen- the patients, who was stillborn, had a Kiefer-Gaumenspalte und Clitoreshyper- large frontal encephalocele contain­ trophie-ein Syndrom. Padiatrie und ing most of the cerebrum, two others Piidalogie. 2,119-124. had hydrocephalus, and one had FREEMAN, M. V. R., GERMAN, J., WIL­ Figure 5—Photomicrograph of a coronal spina bifida (Freeman et al., 1974). LIAMS, D. W.. SCHIMKE, R. M., TEM- section of the hypoplastic brain. An TAMY, S. A., and VACHIER, E. (1974). outer leptomenix and an inner epen- Autopsy was performed in six The Roberts Syndrome. Clin. Genet. 5: 1-16. dyma are seen. The intervening tissue cases. In Case 2 of Freeman et al. (1974), the only abnormality related HOLMES, L. B., MOSER, H. W., HALL- is poorly differentiated. H & E x 50 DORSON, S.. MACK, C, PANT. S. S.. to the central nervous system was MATZILEVICH. B. (1972). Mental Retar­ dilated veins over the anterior fon­ dation. The MacMillan Company, New ity is, it is so strategically placed as to tanels.
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