Naslov
Menkesova bolest: neuobičajeni tijek u dječaka s molekulskom potvrdom bolesti i dugim preživljenjem
(Unusual presentaton of Menkes disease in a boy with a quite prolonged survival)

Autori
Cvitanović Šojat, Ljerka ; Žigman, Tamara ; Malenica, Maša ; Gjergja Juraški, Romana ; Stanojević, Milan ; Vugrinec, Maja

Izvornik
Paediatria Croatica (1330-1403) 57 (2013), 1; 79-81

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, ostalo

Ključne riječi
Menkesova bolest ; ATP7A protein ; bakar ; dojenče
(Menkes kinky hair syndrome ; ATP7A protein ; copper ; infant)

Sažetak
Menkes disease, an X-linked recessive neurodegenerative disorder, results from a mutation in the ATP7A gene. We describe clinical presentation, evolution of the disease and follow up. This is a longitudinal case study illustrating the history of the disease and results of good care. The family history was uneventful, with normal pregnancy and delivery after 36 weeks of gestation. Neonatal jaundice was treated by phototherapy. Feeding problems, hypotonia, failure to thrive and inguinal hernia developed shortly after neonatal period ; 3 intracranial ultrasounds were normal. At the age of 9.5 months, the first neuropediatric examination was done because of developmental delay and clinical picture of infantile spasms. There was no electroencephalogram abnormality, plasma copper and ceruloplasmin were low ; other investigations were normal including cerebrospinal fluid and hair microscopy, with white matter reduction on computerized tomography. The frameshift mutation c.1003_1004insGCAT in exon 4 of ATP7A gene confirmed the diagnosis. Because of pronounced neurologic changes, copper-histidine treatment would not have been beneficial. Focal discharges were seen at the age of 23 months. The parents refused therapy with valproic acid, and lamotrigine was introduced. At 24 months, subdural hemorrhage in the left frontal lobe was observed, with spontaneous resorption after a few months. Magnetic resonance of the brain at 4 years confirmed cortical and cerebellar atrophy with leukodystrophy. Tonic seizures, myoclonic jerks and multifocal epileptiform activity on EEG lasted until the age of 6 years. Although sometimes myoclonic fits are still observed, EEG is without epileptiform activity until today. Now, the boy has 10 years and his weight, length and head circumference correspond to a boy of 4.5 years, with spasticity and weakness of the extremities, without spontaneous movements ; but he smiles. The main clinical manifestations in our patient with Menkes disease are progressive nerve damage, cerebral and cerebellar atrophy, infantile spasms and later myoclonic and focal jerks with multifocal EEG abnormalities. At the age of 10 years, our patient is in vegetative and cachexic stage. Long survival is unusual for this diagnosis and can be attributed to good care.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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