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Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: Nosology of dysosteosclerosis
David Chitayat M. D.,
Keneth Silver,
E. Michel Azouz,
Corresponding Author
David Chitayat M. D.
Department of Pediatrics, Division of Medical Genetics, and The Centre for Human Genetics, Montreal Children's Hospital and McGill University, Montreal, Quebec, Canada
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8Search for more papers by this authorKeneth Silver
Department of Neurology, Montreal Children's Hospital and McGill University, Montreal, Quebec, Canada
Search for more papers by this authorE. Michel Azouz
Department of Radiology, Montreal Children's Hospital and McGill University, Montreal, Quebec, Canada
Search for more papers by this authorDavid Chitayat M. D.,
Keneth Silver,
E. Michel Azouz,
Corresponding Author
David Chitayat M. D.
Department of Pediatrics, Division of Medical Genetics, and The Centre for Human Genetics, Montreal Children's Hospital and McGill University, Montreal, Quebec, Canada
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8Search for more papers by this authorKeneth Silver
Department of Neurology, Montreal Children's Hospital and McGill University, Montreal, Quebec, Canada
Search for more papers by this authorE. Michel Azouz
Department of Radiology, Montreal Children's Hospital and McGill University, Montreal, Quebec, Canada
Search for more papers by this authorAbstract
A girl who presented at 3 months of life with severe developmental delay, blindness, and hearing impairment was found to have intracerebral calcifications. Skeletal films showed craniotubular bone modeling consistent with dysosteosclerosis. The nosology of this disorder is discussed. © 1992 Wiley-Liss, Inc.
References
- Aicardi J, Goutieres F (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15: 49–54.
- Allard JC, Tilak S, Carter AP (1988) CT and MR of MELAS syndrome. Am J Neurorad 9: 1234–1238.
- Altman NR, Purser RK, Post MJD (1988) Tuberous sclerosis: Characteristics at CT and MR imaging. Radiology 167: 527–532.
- Baraitser M, Brett EM, Piesowicz AT (1983) Microcephaly and intracranial calcification in two brothers. J Med Genet 20: 210–212.
- Beighton P, Hamersma H, Raad M (1979) Oculo-dento-osseous dysplasia: Heterogeneity or variable expression. Clin Genet 16: 169–177.
- Belman AL, Lantos G, Horoupian D, Novick BE, Ultmann MH, Dickson W, Rubinstein A (1986) AIDS: Calcification of the basal ganglia in infants and children. Neurology 36: 1192–1199.
- Billard C, Dulac O, Bouloche J, Echenne B, Lebon P, Motte J, Robain D, Santini JJ (1989) Encephalopathy with calcifications of the basal ganglia in children–a reappraisal of Fahr's syndrome with respect to 14 new cases. Neuropediatrics 20: 12–19.
- Breathnach SM, Close JB (1981) An unusual case of connective tissue dysplasia with fractures of premature ageing. Clin Exp Dermatol 6: 291–297.
- Brown GK, Scholem RO, Croll HB, Wraith JE, McGill JJ (1989) Sulfit oxidase deficiency: Clinical, neuroradiologic and biochemical features in two new patients. Neurology 39: 252–257.
- Brownstein MH, Soklnik P (1972) Papillon-Lefévre syndrome. Arch Dermatol 106: 533–534.
- Burn J, Wickramasinghe HT, Harding B, Baraitser M (1986) A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet 30: 112–116.
- Chitayat D, McGillivray BC, Rothstein B, Flodmark O, Priddy RW, Ebelt VJ, Lirenman DS, Hall JG (1989) Familial renal hypophosphatemia, facial anomalies, intracerebral calcifications and non rachitic bone changes: Apparently new syndrome. Am J Med Genet 35: 406–414.
- Chitayat D, Villemure K, Mamer OA, O'Gorman A, Silver K I, Hoar DI (1991) Brain dysgenesis associated with β-hydroxyisobutyric aciduria in monozygotic twins. Eastern Canadian–New England Clinical Genetics Conference, May 31–June 1, Vermont.
- Coccia PF, Krivit W, Cervenka J, Clawson C, Kersey JH, Kim TH, Nesbit ME, Ramasy NKC, Warkentine PI, Teitelbaum SL, Kahn AJ, Brown DM (1980) Successful bone marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 302: 701–708.
- Cockel R, Hill EE, Rushton DI, Smith B, Hawkins CF (1973) Familial steatorrhoea with calcification of basal ganglia and mental retardation (1973). Quart J Med 168: 771–783.
- Cohen CR, Duchesnau PM, Weinstein MA (1980) Calcification of the basal ganglia as visualized by computed tomography. Radiology 134: 97–99.
- Crome L, Duckett S, Franklin AW (1963) Congenital cataracts, renal tubular necrosis and encephalopathy in two sisters. Arch Dis Child 38: 505–515.
- Dobyns WB, Stratton RF, Greenberg F (1984) Syndromes with lissencephaly. I. Miller-Dieker and Norman-Roberts syndrome and isolated lissencephaly. Am J Med Genet 18: 509–526.
- El Khazen N, Faverly D, Vamos E, Van Regemorter N, Flament-Durand J, Carton B, Cremer-Perlmutter N (1986) Lethal osteopetrosis with multiple fractures in utero. Am J Med Genet 23: 811–819.
- Ellis RWB (1933–4) Osteopetrosis. Proc R Soc Med 27: 1563–1571.
- Field CE (1938–9) Albers-Schönberg disease: An atypical case. Proc R Soc Med 32: 320–324.
- Fill WL, Lamiell JM, Polk NO (1979) The radiographic manifestations of von Hippel-Lindau disease. Radiology 133: 289–295.
- Fink JK, Brouwers P, Barton N, Malek M, Sato S, Cohen W, Fivush B, Hill S, Gahl WA (1988) Neurologic complications of longstanding nephropathic cystinosis. Arch Neurol 46: 543–548.
- Fitch N (1982) Albright's hereditary osteodystrophy: A review. Am J Med Genet 11: 11–29.
- Fontain G, Maroteaux P, Farriaux J-P, Bosquet M (1975) Pure spondylar dysplasia or brachyolmy. Apropos of a case. Arch Fr Pediatr 32: 695–708.
- Fowler M, Dow R, White TA, Greer CH (1972) Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: A new disease. Dev Med Child Neurol 14: 173–188.
- Frydman M, Bar-Ziv J, Preminger-Shapiro R, Brezner A, Brand N, Ben-Ami T, Lachman RS, Gruber HE, Rimoin DL (1990) Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications and chondrocyte inclusions. Am J Med Genet 36: 279–284.
- Ghidini A, Sirtori M, Vergani P, Mariani S, Tucci E, Scola GC (1989) Fetal intracranial calcifications. Am J Obstet Gynecol 160: 86–87.
- Golitz LE, Rudikoff J, O'Meara OP (1986) Diffuse neonatal hemangiomatosis. Pediatr Dermatol 3: 145–152.
- Haberland C, Perou M (1970) Encephalocraniocutaneous lipomatosis. Arch Neurol 22: 144–155.
- Hakola HPA, Livanainen M (1973) A new hereditary disease with progressive dementia and polycysticosteodysplasia: Neuroradiological analysis of seven cases. Neurodiology 6: 162–168.
- Hammond DN, Moll GW, Robertson GL, Chelmicka-Schorr E (1986) Hypodipsic hypernatremia with normal osmoregulation of vasopressin. N Engl J Med 315: 433–436.
- Hanson JW, Greaves JP (1976) Colobomas, unilobar lungs and endocardial cushion defect. Synd Ident 4: 11–12.
- Hastings-James R (1970) Lenticulodentate calcification. Radiology 97: 571–576.
- Horikoshi A, Iwabuchi S, Iizuka Y, Hagiwara T, Amaki I (1980) A case of partial lipodystrophy with erythema, dactyllc deformities, calcification of the basal ganglia, immunological disorders and low IQ level (translation). Rinsho Shinkeigaku 20: 173–180.
- Hoyeraal HM, Lamvik J, Moe PJ (1970) Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 59: 185–191.
- Houston CS, Gerrard JW, Ives EJ (1978) Dysosteosclerosis. Am J Roentgenol 130: 988–991.
- Ikbal A, Alter M, Lee SH (1978) Pseudoxanthoma elasticum: A review of neurological complications. Ann Neurol 4: 18–20.
- Illum F (1980) Calcification of the basal ganglia following carbon monoxide poisoning. Neuroradiology 19: 213–214.
- Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bernsen A (1988) Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system. Neuropediatr 19: 186–192.
- Jones KL (1988) “ Smith's Recognizable Patterns of Human Malformation.” New York: WB Saunders, pp 212–213.
- Kahn E, Markowitz J, Duffy L, Kenigsberg K, Davis JG, Daum F (1987) Berry aneurysms, cirrhosis, pulmonary emphysema and bilateral symmetrical cerebral calcifications: a new syndrome. Am J Med Genet 3: 343–356 Suppl.
- Kaufman RL, Hartmann AF, McAlister WH (1972) The association of severe obstructive left heart lesions, vertebral and renal anomalies in sibs (family studies in congenital heart disease I). BDOAS 8 (5): 82–84.
- Keith CG (1968) Retinal atrophy in osteopetrosis. Arch Ophthalmol 79: 234–241.
- Kirkpatrick DB, Rimoin DL, Kaitilia I, Goodman S (1977) The craniotubular bone modeling disorders: A neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression. Surg Neurol 7: 221–232.
- Klawans HL, Lupton M, Simon L (1976) Calcification of the basal ganglia as a cause of levodopa-resistant parkinsonism. Neurology (Minneap) 26: 221–225.
- Kleinert R, Cervos-Navarro J, Kleinert G, Walter GF, Steiner H (1987) Predominantly cerebral manifestation in Urbach-Wiethe's syndrome (lipoid proteinosis cutis et mucosae): A clinical and pathomorphological study. Clin Neuropathol 6: 43–45.
- Lee KF, Suh JH (1977) CT evidence of gray matter calcification secondary to radiation therapy. Comput Tomogr 1: 111–120.
- Levinson ED, Zimmereman AW, Grunnet MI, Lewis RA, Spackman TJ (1982) Cockayne syndrome. J Comput Assist Tomogr 6: 1172–1174.
- Linna S-L, Finni K, Simila S, Kouvalainen K, Laitinen J (1982) Intracerebral calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome. Pediatr Radiol 12: 28–30.
- Litvin Y, Rosler A, Bloom RA (1981) Extensive cerebral calcification in hypothyroidism. Neuroradiology 21: 271–272.
- Lott IT, Williams RS, Schnur JA, Hier DB (1979) Familial amentia, unusual ventricular calcifications and increased cerebrospinal fluid protein. Neurology 29: 1571–1577.
- Loria-Cortes R, Quesada-Calvo E, Cordero-Chaverri E (1977) Osteopetrosis in children: A report of 26 cases. J Pediatr 91: 43–47.
- Lowry RB (1982) Early onset of Cockayne syndrome (Editorial). Am J Med Genet 13: 209–210.
- Malat J, Virapongse C (1985–86) Brain calcification in Kallman's syndrome. Pediat Neurosci 12: 257–259.
- Matsumoto N, Fukushima T, Tomonaga M, Imamura M (1986) Maffucci's syndrome with intracranial manifestations and chromosome abnormalities–a case report. No Shinkei Geka 14 (suppl 3): 403–410.
- Mehta L, Trounch JQ, Moore JR, Young ID (1986) Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. J Med Genet 23: 157–160.
- Mellor DH, Purcell M (1976) Unusual encephalitic illnesses in a child with acute leukemia in remission: Possible role of measles virus and toxoplasma gondii. Neuropediatrie 7: 423–430.
- Miles JH, Zonana J, McFarlane J, Aleck KA, Bawle E (1984) Macrocephaly with hamartoma: Bannayan-Zonana syndrome. Am J Med Genet 19: 225–234.
- Mills SE, Cooper PH, Beacham BE (1979) Intracranial calcifications and dyskeratosis congenita. Arch Dermatol 115: 1437–1439.
- Mirikangas JR, Marasco JA, Freczco WA (1979) Basal ganglia calcification in Down's syndrome. Comput Tomogr 3: 111–113.
- Naguib MG, Sung JH, Erickson DL, Gold LH, Seljeskog EL (1982) Central nervous system involvement in the nevoid basal cell carcinoma syndrome: Case report and review of the literature. Neurosurgery 11: 52–56.
- Neill CA, Dingwall MM (1950) A syndrome resembling progeria: A review of two cases. Arch Dis Child 25: 213–223.
- Nellhaus G, Haberland C, Hill BJ (1967) Sturge-Weber disease with bilateral intracranial calcifications at birth and unusual pathologic findings. Acta Neurol Scand 43: 314–347.
- Nema HV (1974) Craniometaphyseal dysplasia. Br J Ophthalmol 58: 107–109.
- Orwoll ES, Margolin DI, Hammerstad, Calhoun DA, McClung MR (1981) Hyperparathyroidism and intracerebral calcification. Mineral Electrolyte Metab 5: 273–279.
- Ostrovskaya TI, Lazjuk (1988) Cerebral abnormalities in the NeuLaxova syndrome. Am J Med Genet 30: 747–756.
- Pai GS, Levkoff AH, Leithiser RE (1987) Median cleft of the upper lip, associated with lipomas of the central nervous system and cutaneous polys. Am J Med Genet 26: 921–924.
- Pascual-Castroviejo I, Casas-Fernandez C, Lopez-Martin V (1977) X-linked dysosteosclerosis. Eur J Pediat 126: 127–138.
- Pascual-Castroviejo I, Santolaya JM, Martin VL, Rodriguez-Costa T, Tendero A, Mulas F (1975) Cerebro-facio-thoracic dysplasia: report of three cases. Dev Med Child Neurol 17: 343–351.
- Patton MA, Giannelli F, Francis AJ, Baraitser M, Harding B, Williams AJ (1989) Early onset Cockayne's syndrome: Case reports with neuropathological and fibroblast studies. J Med Genet 26: 154–159.
- Protoian-Shuhaiber S, Gumaa K, Hamalawi H, Malla OK, Teebi AS, Al-Rashied A (1987) Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase—a new presentation? J Inherit Metab Dis 10: 397–398.
- Poster CM, Taveras JM (1957) Cerebral angiography in encephalotrigeminal angiomatosis. Radiology 68: 237–336.
- Rambaud J-C, Galian A, Touchard G, Morel-Maroger L, Mikol J, Van Effenterre G, Leclerc J-P, Le Charpentier Y, Haut J, Matuchansky C, Zittoun R (1986) Digestive tract and renal small vessel hyalinosis, idiopathic nonarteriosclerotic intracerebral calcifications, retinal ischemic syndrome and phenotypic abnormalities. Gastroenterology 90: 930–938.
- Robinow M and Johnson GF (1988) The Weismann-Netter syndrome. Am J Med Genet 29: 573–579.
- Rorke LB and Spiro AJ (1967) Cerebral lesions in congenital rubella syndrome. J Pediatr 70: 243–255.
- Roy C, Maroteaux P, Kremp L, Courtecuisse V, Allagile D (1968) Unnouveau syndrome osseux avec anomalies cutanées et troubles neurologiques. Arch Fr Pediatr 25: 893–905.
- Rubinstein LJ (1986) The malformative central nervous system lesions in the central and peripheral forms of neurofibromatosis: A neuropathological study of 22 cases. Ann NY Acad Sci 486: 14–29.
- Satya-Murti S, Navada S, Eames F (1986) Central nervous system involvement in Blue-rubber-bleb-nevus syndrome. Arch Neurol 43: 1184–1186.
- Schulz PE, Weiner SP, Belmont J, Fishman MA (1988) Basal ganglia calcifications in a case biotidinase deficiency. Neurology 38: 1326–1328.
- Seigel RS, Seeger JF, Gabrielsen TO, Allen RJ (1979) Computed tomography in oculocraniosomatic disease (Kearns-Sayre syndrome). Radiology 130: 159–164.
- Sewry CA, Voit T, Dubowitz V (1988) Myopathy with unique ultrastructural feture in Marinesco-Sjögren syndrome. Ann Neurol 24: 576–580.
- Sly WS, Whyte MP, Sundaram V, Tashian RE, Hewett-Emmett D, Guibaud P, Vainsel M, Baluarte HJ, Gruskin A, Al-Mosawi M, Sakati N, Ohlasson A (1985) Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. N Engl J Med 313: 139–145.
- Smith D, Bloch S, Al Rashid RA (1980) Basal ganglia calcification on CT scanning in children with acute lymphocytic leukemia. Neuroradiology 20: 91–93.
- Soriano P, Montgomery C, Geske R, Bradely A (1991) Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice. Cell 64: 693–702.
-
Von Spranger J,
Albrecht Ch,
Rohwedder HJ,
Wiedemann HR
(1968)
Die Dysosteosclerosis—eine sonderform der generalisierten osteosklerose.
Fortschr Röntgenstr
109:
504–512.
10.1055/s-0029-1228480 Google Scholar
-
Stehr L
(1942)
Pathogenese und klinik der osteosclerosen.
Arch Orthop Unfall-Chir
41:
156–182.
10.1007/BF02583079 Google Scholar
- Strabstein JC, Morris N, Larke RPB, deSa DJ, Phil D (Oxon), Castelino BB, Sum E (1974) Is there a congenital varicella syndrome? J Pediatr 84: 239–243.
- Tolmie JL, Browne BH, McGettrick PM, Stephenson JB (1988) A familial syndrome with Coats' reaction retinal angioma, hair and nail defects and intracranial calcification. Eye 2: 297–303.
- Troost D and van Rossum A (1984) Cerebral calcifications and cerebellar hypoplasia in two children: Clinical, radiologic and neuropathological studies—a separate neurodevelopmental entity. Neuropediatrics 15: 102–109.
- Turner JA (1987) Cestodes. In RD Feigin, JD Cherry, (eds): “ Textbook of Pediatric Infectious Diseases,” 2nd ed. Philadelphia: WB Saunders, pp 2112–2113.
- Ventruto V, Ametrano O, D'Avanzo G, Della Bruna M, Stabile M, Lonardo F (1987) A case of autosomal recessive form of craniometaphyseal dysplasia with unusual features and with bone fragility. Australas Radiol 31: 79–82.
- Waaler PE, Aarskog D (1980) Syndrome of hydrocephalus, costovertebral dysplasia and sprengle anomaly with autosomal dominant inheritance. Neuropediatrics 11: 291–297.
- Wertelecki W, Rouleau GA, Superneau DW, Forehand LW, Williams JP, Haines JL, Gusella JF (1988) N Engl J Med 319: 278–283.
- Wilson CB, Remington JS, Stagno S, Reynolds DW (1980) Development of adverse sequelae in children born with subclinical congenital Toxoplasma infection. Pediatrics 66: 767–774.
