Menke-Hennekam syndrome 1: A Case Report
Introduction Menke-Hennekam syndrome (MHS) is a relatively new genetic condition characterized by intellectual disabilities, autistic behavior, auditory defects, recurrent upper respiratory tract infections, microcephaly and short stature. Facial characteristics include short palpebral fissures, te...
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| Format: | Article |
| Language: | English |
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Cambridge University Press
2022-06-01
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| Series: | European Psychiatry |
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| Online Access: | https://www.cambridge.org/core/product/identifier/S0924933822011099/type/journal_article |
| _version_ | 1827754794336387072 |
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| author | M. Trusmei M. Budisteanu |
| author_facet | M. Trusmei M. Budisteanu |
| author_sort | M. Trusmei |
| collection | DOAJ |
| description |
Introduction
Menke-Hennekam syndrome (MHS) is a relatively new genetic condition characterized by intellectual disabilities, autistic behavior, auditory defects, recurrent upper respiratory tract infections, microcephaly and short stature. Facial characteristics include short palpebral fissures, telecanthus, depressed nasal bridge, short nose, anteverted nares, short columella, and long philtrum. The genetic defect is represented by missense variants of CREBBP gene, located on exons 30 or 31. There are only around 30 cases reported by now.
Objectives
The aim of the paper is to report a new case of MHS.
Methods
The case is a 3-year-old boy admitted in our department for developmental delay. The clinical examination revealed dysmorphic features; severe speech delay, mild intellectual disability, autistic behaviour.The patient had a personal history of recurrent respiratory infections, visual defect and bilateral sensorineural hearing loss. Other investigations included EEG, abdominal echography, and cerebral MRI all were normal. The genetic studies included array CGH and WES.
Results
The array CGH was normal. WES identified a pathogenic heterozygote variant c.5600G>A in the exon 31 of CREBBP gene, confirming MHS.
Conclusions
Overall, the features of our patient are consistent with those reported in the previous reports, including developmental and speech delay, autistic behavior, dysmorphic features, recurrent upper way infections, sensorineural hearing loss, and visual defects. Other common features, such as growth delay and microcephaly were not present in our patient. Our case contributes to the clinical characterisation of the new syndrome. Funding: The research leading to these results has received funding from the EEA Grant 2014-2021, under the project contract No 6/2019.
Disclosure
No significant relationships.
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| first_indexed | 2024-03-11T07:55:37Z |
| format | Article |
| id | doaj.art-557c3a6f15804644a6be8f265e90eb2a |
| institution | Directory Open Access Journal |
| issn | 0924-9338 1778-3585 |
| language | English |
| last_indexed | 2024-03-11T07:55:37Z |
| publishDate | 2022-06-01 |
| publisher | Cambridge University Press |
| record_format | Article |
| series | European Psychiatry |
| spelling | doaj.art-557c3a6f15804644a6be8f265e90eb2a2023-11-17T05:05:49ZengCambridge University PressEuropean Psychiatry0924-93381778-35852022-06-0165S436S43710.1192/j.eurpsy.2022.1109Menke-Hennekam syndrome 1: A Case ReportM. Trusmei0M. Budisteanu1University Titu Maiorescu, Faculty Of Medicine, bucharest, RomaniaUniversity Titu Maiorescu, Faculty Of Medicine, bucharest, Romania Introduction Menke-Hennekam syndrome (MHS) is a relatively new genetic condition characterized by intellectual disabilities, autistic behavior, auditory defects, recurrent upper respiratory tract infections, microcephaly and short stature. Facial characteristics include short palpebral fissures, telecanthus, depressed nasal bridge, short nose, anteverted nares, short columella, and long philtrum. The genetic defect is represented by missense variants of CREBBP gene, located on exons 30 or 31. There are only around 30 cases reported by now. Objectives The aim of the paper is to report a new case of MHS. Methods The case is a 3-year-old boy admitted in our department for developmental delay. The clinical examination revealed dysmorphic features; severe speech delay, mild intellectual disability, autistic behaviour.The patient had a personal history of recurrent respiratory infections, visual defect and bilateral sensorineural hearing loss. Other investigations included EEG, abdominal echography, and cerebral MRI all were normal. The genetic studies included array CGH and WES. Results The array CGH was normal. WES identified a pathogenic heterozygote variant c.5600G>A in the exon 31 of CREBBP gene, confirming MHS. Conclusions Overall, the features of our patient are consistent with those reported in the previous reports, including developmental and speech delay, autistic behavior, dysmorphic features, recurrent upper way infections, sensorineural hearing loss, and visual defects. Other common features, such as growth delay and microcephaly were not present in our patient. Our case contributes to the clinical characterisation of the new syndrome. Funding: The research leading to these results has received funding from the EEA Grant 2014-2021, under the project contract No 6/2019. Disclosure No significant relationships. https://www.cambridge.org/core/product/identifier/S0924933822011099/type/journal_articledevelopmentaldelayMenke-Hennekamsyndrome dysmorphicfeaturesautisticbehaviour |
| spellingShingle | M. Trusmei M. Budisteanu Menke-Hennekam syndrome 1: A Case Report European Psychiatry developmentaldelay Menke-Hennekamsyndrome dysmorphicfeatures autisticbehaviour |
| title | Menke-Hennekam syndrome 1: A Case Report |
| title_full | Menke-Hennekam syndrome 1: A Case Report |
| title_fullStr | Menke-Hennekam syndrome 1: A Case Report |
| title_full_unstemmed | Menke-Hennekam syndrome 1: A Case Report |
| title_short | Menke-Hennekam syndrome 1: A Case Report |
| title_sort | menke hennekam syndrome 1 a case report |
| topic | developmentaldelay Menke-Hennekamsyndrome dysmorphicfeatures autisticbehaviour |
| url | https://www.cambridge.org/core/product/identifier/S0924933822011099/type/journal_article |
| work_keys_str_mv | AT mtrusmei menkehennekamsyndrome1acasereport AT mbudisteanu menkehennekamsyndrome1acasereport |