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- W3205419089 abstract "<h3></h3> We describe here a case of an infant who applied initially for bronchyolitis and eczema and was afterwards diagnosed with 1q44 microdeletion syndrome. The child was followed up in his early months of life for cow’s milk allergy and related bronchiolitis and eczema. During the follow up persisting hypotonia and microcephaly began to be more evident. The face atypia was more prominent with frontal bossing, telecanthus, strabismus, small almond like eyes, flat nasal bridge. When the child got nearly 1 year old he came to the emergency department with a generalized febrile seizure, which afterwards followed with other febrile and nonfebrile seizures. In the mean time the child’s general neuromotor development was very delayed with marked central hypotonia and low control of the head. In the laboratory investigations there was a persistent microcytic anemia, despite oral iron replacement. The hemoglobin electrophoresis was normal. There was also noted slight hypothyroidism, which improved after a short time with hormone replacement therapy. The child underwent a cranial MRI which showed agenesis of corpus callosum. The infant was suspected of having a genetic syndrome and Molecular Karyotyping with Whole Genome Deletion/Duplication Analysis was performed. The result was consistent with a loss of 5,3 MB in the region 1q44 and a gain of 4,1 MB in the region 21p11.2q11.2. Here, we present the first case of chromosome 1q44 deletion in Albania confirmed by microarray analysis. In literature, all reported patients showed growth and psychomotor retardation. In addition, many patients showed CNS anomalies, such as agenesis/thin corpus callosum or hydrocephalus, hypotonia, seizure, autonomic dysfunction, and feeding difficulties. In our case, brain MRI revealed partial agenesis of corpus callosum, delayed myelination, and seizures. We recommend orchypexy in order to prevent tumoral transformation of the testes." @default.
- W3205419089 created "2021-10-25" @default.
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- W3205419089 date "2021-10-01" @default.
- W3205419089 modified "2023-10-18" @default.
- W3205419089 title "82 Rare genetic syndrome presenting as cow milk allergy and eczema" @default.
- W3205419089 doi "https://doi.org/10.1136/archdischild-2021-europaediatrics.82" @default.
- W3205419089 hasPublicationYear "2021" @default.
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