A Case with bioti dinase deficiency accompanied by diffuse demyelination and cerebral atrophy

Abstract

Biotinidase deficiency is an inherited disorder which has autosomal recessive pattern; it occurs in approximately 1 in 60,000 live births. Usually it manifests seborrheic dermatitis, alopecia, ataxia, convulsions, hypotonia, developmental delay, hearing loss, chronic lactic acidosis and immune deficiency. Its diagnosis is made by the measurement of serum biotinidase enzyme activity and determination of the enzyme. Herein presented that a two and half-month-old boy with biotinidase enzyme deficiency which had cerebral atrophy without any skin signs. In the patients presented with refractory convulsions with unexplainable etiology without any skin lesions, as in our patient, biotinidase enzyme deficiency should be considered and the treatment should be established in early period to prevent many complications that may develop. Key words: Biotidinase deficiency, demyelination, cerebral atrophy, child

Keywords

• -

A Case with bioti dinase deficiency accompanied by diffuse demyelination and cerebral atrophy

Öz

-

Anahtar Kelimeler

• -

References

1. Wolf B, Grier RE, Secor McVoy JR, Heard GS. Biotinidase deficiency: a novel vitamin recycling defect. J Inherit Metab Dis 1985;8:53-8
2. Hoffman TL, Simon EM, Ficicioglu C. Biotinidasedeficiency: the importance of adequate follow-up for aninconclusive newborn screening result. Eur J Pediatr 2005;164:298-301
3. Baykal T, Huner G, Sarbat G, Demirkol M. Incidence of biotinidase deficiency in Turkish new-borns. Acta Pediatr 1998;87:1102-3
4. Hou JW. Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. Chang Gung Med J 2004;27:129-33
5. Wolf B. Biotinidase Deficiency: New Directions and Practical Concerns. Curr Treat Options Neurol 2003;5:321-8
6. Neto EC, Schulte J, Rubim R, et al. Newborn screening for biotinidase deficiency in Brazil: biochemical and molecu- lar characterizations. Braz J Med Biol Res 2004;37:295-9
7. Puertas Bordallo D, Martín Reyes C, Ruiz-Falcó Rojas ML, Duat Rodríguez A, Valls Ferrán MI. Optic neuropathy in bi- 199 otinidase deficiency. Arch Soc Esp Oftalmol 2004;79:393-6
8. Yang YL, Yamaguchi S, Tagami Y, et al. Diagnosis and treatment of biotinidase deficiency-clinical study of six patients. Zhonghua Er Ke Za Zhi 2003;41:249-51

9. Möslinger D, Mühl A, Suormala T, Baumgartner R, Stöckler- Ipsiroglu S. Molecular characterisation and neuropsycho- logical outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Eur J Pediatr 2003;162:46-9