Microlissencephaly in Microcephalic Osteodysplastic Primordial Dwarfism: A Case Report and Review of the Literature[*]

Abstract

Microcephalic osteodysplastic primordial dwarfism (MOPD) is defined as a syndrome presenting with intrauterine and postnatal growth retardation, typical facial appearance, skeletal dysplasia and brain abnormalities. Autosomal-recessive inheritance is suspected. Sharing clinical manifestations, the former type III has been accepted to be the same entity as type I. We present the case of a male infant with MOPD I and micrencephaly with simplified gyral pattern to a degree defining it as microlissencephaly (MLIS). The brain abnormalities in MOPD I have not yet been classified. Reviewing the literature, we conclude that microlissencephaly appears to be the distinct developmental brain abnormality in MOPD I. Conversely, osteodysplastic changes have to be taken into consideration in the differential diagnosis of microlissencephaly. In addition, our patient suffered from acute lymphatic leukaemia which has not previously been described in association with MOPD I.

Key words

Microcephalic Osteodysplastic Primordial Dwarfism - Microlissenencephaly - Microcephaly with Simplified Gyral Pattern - Oligogyric Microcephaly

1 The authors wish to dedicate this article to the memory of Frank Majewski (Berlin, 1941 - Düsseldorf, 2001)

References

• 1 Barkovich A J, Ferriero D M, Barr R M, Gressens P, Dobyns W B, Truwit Ch L, Evrard P H. Microlissencephaly: A heterogenous malformation of cortical development.  Neuropediatrics. 1998;  29 113-119
• 2 Berger A, Haschke N, Kohlhauser C, Amman G, Unterberger U, Weniger M. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.  J Med Genet. 1998;  35 61-64
• 3 Brandt I. Human Growth. A Comprehensive Treatise. 2nd ed. New York; Plenum Press 1986
• 4 Dobyns W B, Barkovich A J. Microcephaly with simplified gyral pattern (oligyric microcephaly) and microlissencephaly: reply.  Neuropediatrics. 1999;  30 104-106
• 5 Haan E A, Furness M E, Knowles S, Morris L L, Scott G, Svigos J M, Vigneswaren R. Osteodysplastic primordial dwarfism: report of a further case with manifestation similar to those of types I and III.  Am J Med Genet. 1989;  33 224-227
• 6 Hanefeld F A. Oligogyric microcephaly.  Neuropediatrics. 1999;  30 102-103
• 7 Keen D V, Pearse R G. Weight, length and head circumference curves for boys and girls of between 20 and 40 weeks gestation.  Arch Dis Child. 1988;  63 1170-1172
• 8 Kozlowski K, Donovan T, Masel J, Wright R G. Microcephalic, osteodysplastic, primordial dwarfism.  Australas Radiol. 1993;  37 111-114
• 9 Kunze D. Perzentilenkurven zur Bestimmung der Alters-, Größen- und der Größen-Gewichtsbeziehung.  Kinderarzt. 1977;  8 979-986
• 10 Majewski F, Spranger J. Über einen neuen Typ des primordialen Minderwuches: Der brachymele primordiale Minderwuchs.  Mschr Kinderheilk. 1976;  124 499-503
• 11 Majewski F, Goecke T. Studies of osteodysplastic primordial dwarfism I: approach to a delineation of the Seckel syndrome.  Am J Med Genet. 1982;  12 7-21
• 12 Majewski F, Stoeckenius M, Kemperdick H. Studies of osteodysplastic primordial dwarfism type III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles - osteodyplastic primordial dwarfism type III.  Am J Med Genet. 1982;  12 37-42
• 13 Matsumoto N, Leventer R J, Kuc J A, Mewborn S K, Dudlicek L L, Ramocki M B. et al . Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.  Eur J Hum Genet. 2001;  9 5-12
• 14 Maresh M M. Normal values of long tubular bone length.  Am J Dis Child. 1955;  6 735-742
• 15 Meinecke P, Passarge E. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.  J Med Genet. 1991;  28 795-800
• 16 Meinecke P, Schaefer E, Wiedemann H R. Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III.  Am J Med Genet. 1991;  80 232-236
• 17 Sigaudy S, Toutain A, Monca A, Fredouille C, Bourliere B, Ayme S, Philip N. Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.  Am J Med Genet. 1998;  80 16-24
• 18 Taybi H, Linder D. Congenital familial dwarfism with cephaloskeletal dysplasia.  Radiology. 1967;  89 275-281
• 19 Van Maldergrem L, Gillerot Y, Godhaird M, Nemc E, Koulischer L. Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.  Clin Genet. 1990;  38 359-361
• 20 Von Harnack G A. Normal values of skeletal maturation of calcaneus and talus.  Z Geburtshilfe Perinatol. 1974;  178 237-244
• 21 Winter R M, Wigglesworth J, Harding B N. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in types I and III.  Am J Med Genet. 1985;  21 569-574

1 The authors wish to dedicate this article to the memory of Frank Majewski (Berlin, 1941 - Düsseldorf, 2001)