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Boletín Médico del Hospital Infantil de México

2008, Number 3

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Bol Med Hosp Infant Mex 2008; 65 (3)

Neurological sequelae in three patients with late-diagnosed classic phenylketonuria

Sánchez-Peña A, Martínez-de Villarreal L, Arteaga-Alcaraz G, Torres-Sepúlveda R, Marroquín-Escamilla AR, Abrego-Moya V, Villarreal-Pérez Z, Esmer-Sánchez C

Language: Spanish
References: 21
Page: 191-195
PDF size: 145.45 Kb.


ABSTRACT

Introduction. Phenylketonuria is a genetic disease that can be diagnosed easily and treated promptly avoiding long-term disabilities. Nevertheless, some children still lack neonatal screening as well as appropriate diagnosis, and they may present serious irreversible neurological damage.
Case report. We report 3 cases. Case 1 is a 12 month-old female with motor and developmental delay. Phenylalanine levels were 1 285 µmol/L (normal values 31-75 µmol/L). Her sister (case 2) was a 6 year-old mentally retarded child previously thought to be due to hypoxic-ischemic encephalopathy; her phenylalanine levels were 1 729 ݣmol/L. Case 3 describes a 10 year-old female with developmental delay, hyperactivity, anxiety, irritability, microcephaly, light-colored hair, and white skin. Phenylalanine levels were 1 170 µmol/L. A low-phenylalanine diet was prescribed for each patient. One month later they were evaluated and showed significantly reduced phenylalanine levels (50%). Currently, they maintain normal values and show important physical and neurological improvement.
Conclusions. In cases of late-diagnosed phenylketonuria, a prompt treatment with a strict nutritional management may revert some of the neurological damage developed in these patients.


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