Summary
Agenesis of the cerebellar vermis with fusion of the dentate nuclei and cerebellar hemispheres (rhombencephalosynapsis) is a rare cerebral malformation. We report the case of a 7-h-old girl whose mother had taken the drug phencyclidine during the first 6 weeks of pregnancy. Absence of the septum pellucidum, hypoplasia of the commissural system, optic nerves, chiasm and tracts, moderate hydrocephalus, and agenesis of the posterior lobe of the pituitary were also found. Extracranial congenital anomalies involved the cardiovascular, respiratory, urinary, and musculoskeletal systems. Death was secondary to severe respiratory distress and bradycardia. The literature concerning this rare form of cerebellar malformation is reviewed.
Similar content being viewed by others
References
Brodal A, Hauglie-Hanssen E (1959) Congenital hydrocephalus with defective development of the cerebellar vermis (Dandy-Walker syndrome). J Neurol Neurosurg Psychiatr 22:99–108
Brook DGD, Sanders MD, Hoare RD (1972) Septo-optic dysplasia. Br Med J 3:811–813
Cummings AJ, Jones HMR, Cooper JE (1979) Transplacental disposition of phencyclindine in the pig. Xenobiotica 9:447–452
De Morsier G (1955) Etudes sur les dysraphies cranioencéphaliques. II: Agénésie du vermis cérébelleux. Dysraphie rhombocéphalique médiane (rhomboschizis). Monatsschr Psychiatr Neurol 129:321–334
De Morsier G (1956) Etudes sur les dysraphies cranio-encéphaliques. III: Agénésie du septum lucidum avec malformation du tractus optique. La dysplasie septo-optique. Schweiz Arch Neurol Psychiatr 77:267–292
Elster AB, McAnarey ER (1979) Maternal age re septo-optic dysplasia (letter). J Pediatr 94:162–163
Friede RL, Boltshauser E (1978) Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev Med Child Neurol 20:758–763
Friede RL (1978) Uncommon syndromes of cerebellar vermis aplasia. II. Tectocerebellar dysraphia with occipital encephalocele. Dev Med Child Neurol 20:764–772
Frisch H, Schober E (1980) Opticushypoplasie und Wachstumshormonmangel. De-Morsier-Syndrom. Monatsschr Kinderheilk 128:50–52
Golden NL, Sokol RJ, Rubin IL (1980) Angel dust: Possible effects on the fetus. Pediatrics 65:18–20
Goodwin PJ, Perez VJ, Eatwell JC, Palet JL, Jaworski MT (1980) Phencyclidine: Effects of chronic administration in the female mouse on gestation, maternal behavior and the neonates. Psychopharmacology 69:63–67
Gross H (1959) Die Rhombencephalosynapsis, eine systemisierte Kleinhirnfehlbildung. Arch Psychiatr Z Neurol 199:537–552
Gross H, Hoff H (1959) Sur les dysraphies cranioencéphaliques. In: Heuyer G, Feld M, Gruner J (eds) Malformations congénitales du cerveau. Masson, Paris, pp 287–296
Hart MN, Malamud N, Ellis WG (1972) The Dandy-Walker syndrome. A clinicopathological study based on 28 cases. Neurology 22:771–780
Hoyt WF, Kaplan SL, Grumbach MM, Glaser SJ (1970) Septooptic dysplasia and pituitary dwarfism. Lancet 1:893–894
Huseman CA, Kelch RP, Hopwood NJ, Zipe WB (1978) Sexual precocity in association with septo-optic dysplasia and hypothalamic hypopituitatism. J Pediat 92:748–753
Jordan RL, Young TR, Dinwiddie SH, Harry GJ (1979) Phencyclidine-induced morphological and behavioral alterations in the neonatal rat. Pharmacol Biochem Behav [Suppl] 11:39–45
Joubert M, Eisenring L-J, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813–825
Karch SB, Urich H (1972) Occipital encephalocele: a morphological study. J Neurol Sci 15:89–112
Kepes JJ, Clough C, Villanueva A (1969) Congenital fusion of the thalami (atresia of the third ventricle) and associated anomalies in a 6 months old infant. Acta Neuropathol (Berl) 13:97–104
Krause-Brucker W, Gardner DW (1980) Optic nerve hypoplasia associated with absent septum pellucidum and hypopituitarism. Am J Ophthalmol 89:113–120
Lerner SE, Bruns RS (1978) Phencyclidine use among youth: history, epidemiology, and acute and chronic intoxication. In: Petersen R, Stillman R (eds) Phencyclidine (PCP) abuse: an appraisal. U. S. Government Printing Office. Washington, pp 66–118
Lovrenčić MK, Oberiter R, Banovac ZR, Schmutzer L, Petek M (1978) Pituitary function in a patient with septo-optic dysplasia and pituitary dwarfism. Eur J Pediat 129:47–53
McKinna AJ (1966) Quinine induced hypoplasia of the optic nerve. Can J Ophthalmol 1:261–266
Marks TA, Worthy WC, Staples RE (1980) Teratogenic potential of phencyclidine in the mouse. Teratology 21:241–246
Obersteiner H (1916) Ein Kleinhirn ohne Wurm. Arb Neurol Inst Univ Wien 21:124–136
Patel H, Tze WJ, Crichton JV, McCormick AQ, Robinson GC, Dolman CL (1975) Optic nerve hypoplasia with hypopituitarism. Am J Dis Child 129:175–180
Smith MT, Huntington HW (1977) Inverse cerebellum and occipital encephalocele: a dorsal fusion defect uniting the Arnold-Chiari and Dandy-Walker spectrum. Neurology 27:246–251
Walker FA, Seig JA (1973) Phencyclidine and environmental teratogen. Mutat Res 21:348–349
Wilson PW, Easley RB, Bolander FF, Hammond CB (1978) Evidence for a hypothalamic defect in septo-optic dysplasia. Arch Int Med 138:1276–1277
Zaias B, Becker D (1978) Septo-optic dysplasia: developmental or acquired abnormality? A case report. Trans Am Neurol Assoc 103:273–277
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Michaud, J., Mizrahi, E.M. & Urich, H. Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Acta Neuropathol 56, 161–166 (1982). https://doi.org/10.1007/BF00690631
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00690631