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Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy
Author(s) -
Barba Carmen,
Darra Francesca,
Cusmai Raffaella,
Procopio Elena,
Dionisi Vici Carlo,
Keldermans Liesbeth,
VuillaumierBarrot Sandrine,
Lefeber Dirk J,
Guerrini Renzo
Publication year - 2016
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.13141
Subject(s) - status epilepticus , compound heterozygosity , microcephaly , pediatrics , medicine , epilepsy , encephalopathy , concomitant , atrophy , mutation , genetics , gene , biology , psychiatry
Aim Epilepsy is commonly observed in congenital disorders of glycosylation ( CDG ), but no distinctive electroclinical pattern has been recognized. We aimed at identifying a characteristic clinical presentation that might help targeted diagnostic work‐up. Method Based on the initial observation of an index case with CDG and migrating partial seizures, we evaluated 16 additional children with CDG and analysed their clinical course, biochemical, genetic, electrographic, and imaging findings. Results Four of 17 consecutively observed children with CDG (three females, one male) were first referred between the first and fourth month of life, after early onset of migrating partial seizures. All four patients manifested developmental delay, microcephaly, and multi‐organ involvement. Magnetic resonance imaging disclosed cerebral and cerebellar atrophy. Isoelectrofocusing of transferrin, enzymatic studies, and lipid‐linked oligosaccharide analysis indicated CDG ‐I. Genetic testing demonstrated either homozygous or compound heterozygous variants involving the ALG 3 gene in patients 1 and 3, the RFT 1 gene in patient 2, and the ALG 1 gene in patient 4. At last follow‐up, patients 1 and 2 were 5 and 3 1/2 years old. Patients 3 and 4 had died due to respiratory failure during pneumonia and refractory status epilepticus respectively. Interpretation Children with migrating partial seizures and concomitant multisystem involvement should be investigated for CDG .