Abstract
Objectives
Microdeletions in chromosomal region 17p13.3 are associated with neuronal migration disorders, with PAFAB1H1 being the major gene affected. The genomic imbalances, including the YWHAE and CRK genes, cause more severe structural brain malformations. The spectrum ranges from an isolated lissencephaly sequence to Miller-Dieker syndrome (MDS). Patients carrying only YWHAE and CRK deletions but sparing PAFAH1B1 may have severe growth restriction, neurodevelopmental delay, common craniofacial features, structural brain abnormalities.
Materials and Methods
Case report.
Results
We describe the case of a 2 years and 7-months old girl with 17p13.3 microdeletion syndrome. The patient is a carrier of YWHAE and CRK deletions, but she lacks PAFAH1B. Her current height is 78 cm (>-3SD), weight 8kg (>-3SD). She began walking at 14 months, her gait is consistent with her age. Her communication skills partially correspond to her age. The first signs appeared right after birth – she had developed stigmas, including, low-set ears, a short neck, wide eye gap. She had an enlarged large fontanel (3 x 3 cm), umbilical hernia, diffuse hypotonia, and a prolonged bleeding episode after biopsy. Hirschsprung's disease was suspected. The first visit to the geneticist was at 2 months of age. Noonan, DiGeorge syndrome, inherited metabolic disorders, were excluded. Later on, whole exome sequencing confirmed 17p13.3
microdeletion syndrome. Although patients with 17p13.3 microdeletion syndrome have relevant structural brain abnormalities in most cases, this case was different. Her MRI findings showed wider liquor spaces in the basal ganglia and slightly wider lateral ventricles. However, no characteristic MRI changes for neuronal migration disorders were found.
Conclusions
We describe a rare case in which a patient with 17p13.3 microdeletion syndrome has severe growth restriction but no characteristic structural brain abnormalities. Thus, our experience shows that confirmed genetic analysis is not always consistent with all described malformations and helps to broaden the phenotype of 17p13.3 microdeletion syndrome.
Microdeletions in chromosomal region 17p13.3 are associated with neuronal migration disorders, with PAFAB1H1 being the major gene affected. The genomic imbalances, including the YWHAE and CRK genes, cause more severe structural brain malformations. The spectrum ranges from an isolated lissencephaly sequence to Miller-Dieker syndrome (MDS). Patients carrying only YWHAE and CRK deletions but sparing PAFAH1B1 may have severe growth restriction, neurodevelopmental delay, common craniofacial features, structural brain abnormalities.
Materials and Methods
Case report.
Results
We describe the case of a 2 years and 7-months old girl with 17p13.3 microdeletion syndrome. The patient is a carrier of YWHAE and CRK deletions, but she lacks PAFAH1B. Her current height is 78 cm (>-3SD), weight 8kg (>-3SD). She began walking at 14 months, her gait is consistent with her age. Her communication skills partially correspond to her age. The first signs appeared right after birth – she had developed stigmas, including, low-set ears, a short neck, wide eye gap. She had an enlarged large fontanel (3 x 3 cm), umbilical hernia, diffuse hypotonia, and a prolonged bleeding episode after biopsy. Hirschsprung's disease was suspected. The first visit to the geneticist was at 2 months of age. Noonan, DiGeorge syndrome, inherited metabolic disorders, were excluded. Later on, whole exome sequencing confirmed 17p13.3
microdeletion syndrome. Although patients with 17p13.3 microdeletion syndrome have relevant structural brain abnormalities in most cases, this case was different. Her MRI findings showed wider liquor spaces in the basal ganglia and slightly wider lateral ventricles. However, no characteristic MRI changes for neuronal migration disorders were found.
Conclusions
We describe a rare case in which a patient with 17p13.3 microdeletion syndrome has severe growth restriction but no characteristic structural brain abnormalities. Thus, our experience shows that confirmed genetic analysis is not always consistent with all described malformations and helps to broaden the phenotype of 17p13.3 microdeletion syndrome.
Original language | English |
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Pages | 20-20 |
Number of pages | 1 |
Publication status | Published - 2024 |
Externally published | Yes |
Event | 17th Conference of Baltic Child Neurology Association - Jurmala , Latvia Duration: 23 May 2024 → 25 May 2024 Conference number: 17 https://www.bcna2024.lv/ |
Conference
Conference | 17th Conference of Baltic Child Neurology Association |
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Country/Territory | Latvia |
City | Jurmala |
Period | 23/05/24 → 25/05/24 |
Internet address |
Keywords*
- case report
- human genetics
- neurology
Field of Science*
- 3.2 Clinical medicine
- 3.1 Basic medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)