Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

Abstract

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a genetic syndrome. Its main characteristics are bony dysplasia, prenatal and postnatal growth deficiencies, microcephaly, and cerebrovascular disease. Several other features have been added recently. We report an individual with MOPDII affected by congenital renal dysplasia and hyperosmolar coma diabetic onset. Renal dysplasia has not been previously described in individuals with MOPDII. By publishing cases of unusual genetic disorders, it will be possible to broaden the spectrum of these rare syndromes, and improve the diagnosis and management of comorbidities.

Keywords

microcephalic osteodysplastic primordial dwarfism type II - nephrology - diabetes

Publication History

Received: 15 March 2020

Accepted: 28 July 2020

Article published online:
07 September 2020

• References

• 1 Majewski F, Ranke M, Schinzel A. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet 1982; 12 (01) 23-35
• 2 Terlemez A, Altunsoy M, Celebi H. Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient. J Istanb Univ Fac Dent 2015; 49 (01) 41-46
• 3 Willems M, Geneviève D, Borck G. et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet 2010; 47 (12) 797-802
• 4 Majewski F, Goecke T, Opitz JM. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet 1982; 12 (01) 7-21
• 5 Pachajoa H, Ruiz-Botero F, Isaza C. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. J Med Case Reports 2014; 8 (01) 191
• 6 Rauch A, Thiel CT, Schindler D. et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008; 319 (5864): 816-819
• 7 Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG. Hip pathology in Majewski osteodysplastic primordial dwarfism type II. J Pediatr Orthop 2014; 34 (06) 585-590
• 8 Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A 2004; 130A [phone]
• 9 Brancati F, Castori M, Mingarelli R, Dallapiccola B. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. Am J Med Genet Part A 2005; 139 (03) 212-215
• 10 Huang-Doran I, Bicknell LS, Finucane FM. et al; Majewski Osteodysplastic Primordial Dwarfism Study Group. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes 2011; 60 (03) 925-935
• 11 Bober MB, Jackson AP. Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review. Curr Osteoporos Rep 2017; 15 (02) 61-69
• 12 Carrascosa A, Fernández JM, Ferrández Á, López-Siguero JP, López D, Sánchez E. Estudios españoles de crecimiento 2010. Accessed on August 8, 2020 at: https://www.aeped.es/noticias/estudios-espanoles-crecimiento-2010
• 13 Hall JG, Flora C, Scott Jr CI, Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A 2004; 130A (01) 55-72
• 14 Alrajhi H, Alallah J, Shawli A, Alghamdi K, Hakami F. Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene. BMJ Case Rep 2019; 12 (05) e224197
• 15 Hall JG. The smallest of the small. Gene 2013; 528 (01) 55-57
• 16 Meng L, Tu C, Lu G, Lin G, Tan Y. Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect. Sci China Life Sci 2019; 62 (01) 144-147
• 17 Ozel F, Direk N, Ataseven Kulali M, Giray Bozkaya O, Ada E, Alptekin K. Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia. Psychiatr Genet 2019; 29 (02) 57-60
• 18 Chen W-J, Huang F-C, Shih M-H. Ocular characteristics in a variant microcephalic primordial dwarfism type II. BMC Pediatr 2019; 19 (01) 329
• 19 Griffith E, Walker S, Martin CA. et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 2008; 40 (02) 232-236
• 20 Moftakhar P, Smith ER, Choulakian A, Scott RM, Danielpour M. moyamoya disease in children with congenital dwarfing conditions. Pediatr Neurosurg 2010; 46 (05) 373-380
• 21 Bober MB, Niiler T, Duker AL. et al. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet Part A 2012; 158A (11) 2719-2725
• 22 Faienza MF, Acquafredda A, D'Aniello M. et al. Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency. J Pediatr Endocrinol Metab 2013; 26 (7-8): 771-774
• 23 Rauch A. The shortest of the short: pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab 2011; 25 (01) 125-130
• 24 Duker AL, Niiler T, Bober MB. Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II. Am J Med Genet A 2017; 173 (11) 3067-3069