[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].

Abstract

INTRODUCTION:

Dyggve-Melchior-Clausen syndrome (DMCS) is a rare autosomal recessive disorder produced by mutations in the Dymeclin gene recently identified. It is characterized by the association of a progressive spondylo-epi-metaphyseal dysplasia and mental retardation ranging from mild to severe. The clinical and radiological similarities at the onset of the condition with the Morquio disease may hinder its diagnosis and no biochemical abnormality that causes it has been described as of yet.

CLINICAL CASE:

An eight-year-old girl had progressive postnatal dwarfism. Platyspondyly and dysplasic epiphyses and metaphyses with biochemical studies that resembled those of Morquio's disease; however the presence of specific radiological features and mental retardation led to the diagnosis of DMCS. A missense Dym mutation in homozygosis was identified.

CONCLUSION:

This entity should be known as it may be easily confused with Morquio disease. Radiological appearance of the iliac crests are very pathognomonic of DMCS. Identification of Dym gene is an important step towards the prenatal diagnosis.

• Authors: C M Rodríguez Rodríguez, M Pineda Marfa, R Duque, V Cormier-Daire
• Journal: Neurologia (Barcelona, Spain) (Neurologia) Vol. 22 Issue 2 Pg. 126-9 (Mar 2007) ISSN: 0213-4853 [Print] Spain
• Vernacular Title: Síndrome de Dyggve-Melchior-Clausen, dificultad en su diagnóstico por similitud con la enfermedad de Morquio.
• PMID: 17323241 (Publication Type: Case Reports, Journal Article)

Chemical References

• DYM protein, human
• Intracellular Signaling Peptides and Proteins
• Proteins

Topics

• Child
• Diagnosis, Differential
• Dwarfism (genetics)
• Female
• Humans
• Intellectual Disability (genetics)
• Intracellular Signaling Peptides and Proteins
• Mucopolysaccharidosis IV (diagnosis)
• Mutation, Missense
• Proteins (genetics)
• Syndrome