1 - Unidade de Pediatria Médica, Área de Pediatria, Hospital Dona Estefânia, Unidade Local de Saúde de São José, Lisboa
2 - Unidade de Neuropediatria, Área de Pediatria, Hospital Dona Estefânia, Unidade Local de Saúde de São José, Lisboa
3 - Unidade de Hematologia Pediátrica, Área de Pediatria, Hospital Dona Estefânia, Unidade Local de Saúde de São José, Lisboa
- Publicação sob forma de carta ao editor na revista “Pediatric Blood & Cancer”
Resumo:
Introduction: Copper plays a crucial role in blood cell formation, and its deficiency may cause hematologic abnormalities such as anemia and neutropenia, usually without thrombocytopenia. It may also lead to brittle, hypopigmented hair and poor wound healing. Although rare, copper deficiency (CD) can occur in children following a ketogenic diet (KD), a high-fat, low-carbohydrate treatment for refractory epilepsy. The restrictive nature of KD and possible interference from other elements like zinc and iron can impair copper absorption. However, current guidelines do not recommend copper monitoring or supplementation.
Case: We report the case of a 5-year-old boy with global developmental delay and epileptic encephalopathy who started KD at 9 months of age due to treatment-resistant epilepsy. Despite adequate multivitamin and mineral supplementation, he developed macrocytosis, mild neutropenia, and brittle hair. Hemoglobin levels remained within normal range, and other lab findings, including vitamin B12, folate, thyroid function, iron, and zinc, were normal. Eventually, low serum and urinary copper levels confirmed copper deficiency. Bone marrow examination was avoided, and a watchful waiting approach was adopted, since KD was scheduled to be discontinued. Six months after stopping KD, the child’s copper levels, blood count, and hair appearance normalized. This strongly suggests that KD was the cause of the deficiency. The hematologic abnormalities may stem from impaired function of copper-dependent enzymes involved in hematopoiesis and iron metabolism. Although antiepileptic drugs can cause neutropenia, this was unlikely since the child’s medication remained unchanged. CD can mimic serious conditions like myelodysplastic syndrome but is reversible with proper diagnosis.
Conclusions: Despite its effectiveness in treating epilepsy, KD demands close nutritional monitoring. Copper bioavailability depends on multiple dietary and physiological factors, and deficiency may go unnoticed for months. When discontinuation of KD is not an option, copper supplementation or dietary adjustments may be needed. Monitoring of copper levels and ceruloplasmin is recommended. This case highlights the importance of considering copper deficiency in KD patients with unexplained blood count changes. Early detection can prevent unnecessary procedures and improve outcomes.
Palavras Chave: epilepsia refratária; dieta cetogénica; défice de cobre.