Martínez-Peniche JL, Vidal-Ruiz CA, Vanegas-Medellín M

Language: Spanish
References: 7
Page: 44-47
PDF size: 377.88 Kb.

ABSTRACT

Mitochondriopathies are rare genetic mutations of mitochondrial nuclear DNA that affect primarily the respiratory chain, decreasing the production of cellular ATP. These mutations can be de novo or congenital and have a broad spectrum of clinical presentations. They were first reported in 1958 and four to five new cases are reported per 100,000 births annually. They manifest more frequently as symptoms in organs with high energetic demand and are a diagnostic challenge due to the heterogeneity of clinical manifestations. We present the case of a 16-month-old patient with homozygous deletion mutation of ECHS-1 and glucose-6-phosphate dehydrogenase deficiency. ECHS-1 deficiency has been reported in less than 30 cases worldwide. The deletion manifests in the present case as psychomotor retardation, gastroesophageal reflux, dystonia of difficult control and muscle spasms that have twice caused traction fractures in metaphysis of long leg bones.

REFERENCES

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EVIDENCE LEVEL

IV