Abstract
Objectives. Background: 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. Patients carrying only YWHAE and
CRK deletions but sparing PAFAH1B1 may have growth restriction, neurodevelopmental delay, common
craniofacial features, structural brain abnormalities.
Case presentation:
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 9 kg (> -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 - 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, 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,
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 syndro me
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. Patients carrying only YWHAE and
CRK deletions but sparing PAFAH1B1 may have growth restriction, neurodevelopmental delay, common
craniofacial features, structural brain abnormalities.
Case presentation:
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 9 kg (> -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 - 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, 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,
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 syndro me
Original language | English |
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Pages | 269-269 |
Number of pages | 1 |
Publication status | Published - 2023 |
Externally published | Yes |
Event | RSU Research Week 2023: Research Week 2023 Rīga Stradiņš University - Riga Stradins University, Riga, Latvia Duration: 27 Mar 2023 → 31 Mar 2023 https://rw2023.rsu.lv/general-information https://rw2023.rsu.lv |
Conference
Conference | RSU Research Week 2023 |
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Abbreviated title | RW2023 |
Country/Territory | Latvia |
City | Riga |
Period | 27/03/23 → 31/03/23 |
Internet address |
Keywords*
- microdeletion syndrome
- case report
- human genetics
Field of Science*
- 3.2 Clinical medicine
Publication Type*
- 3.4. Other publications in conference proceedings (including local)