Did you mean: hallermann s syndrome
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Brain : a Journal of Neurology May 2023N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common subtype of autoimmune encephalitis characterized by a complex neuropsychiatric syndrome usually...
N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common subtype of autoimmune encephalitis characterized by a complex neuropsychiatric syndrome usually including memory impairment. Patients develop an intrathecal immune response against NMDARs with antibodies that presumably bind to the amino-terminal domain of the GluN1 subunit. The therapeutic response to immunotherapy is often delayed. Therefore, new therapeutic approaches for fast neutralization of NMDAR antibodies are needed. Here, we developed fusion constructs consisting of the Fc part of immunoglobulin G and the amino-terminal domains of either GluN1 or combinations of GluN1 with GluN2A or GluN2B. Surprisingly, both GluN1 and GluN2 subunits were required to generate high-affinity epitopes. The construct with both subunits efficiently prevented NMDAR binding of patient-derived monoclonal antibodies and of patient CSF containing high-titre NMDAR antibodies. Furthermore, it inhibited the internalization of NMDARs in rodent dissociated neurons and human induced pluripotent stem cell-derived neurons. Finally, the construct stabilized NMDAR currents recorded in rodent neurons and rescued memory defects in passive-transfer mouse models using intrahippocampal injections. Our results demonstrate that both GluN1 and GluN2B subunits contribute to the main immunogenic region of the NMDAR and provide a promising strategy for fast and specific treatment of NMDAR encephalitis, which could complement immunotherapy.
Topics: Mice; Animals; Humans; Receptors, N-Methyl-D-Aspartate; Induced Pluripotent Stem Cells; Encephalitis; Autoantibodies; Hashimoto Disease
PubMed: 36866449
DOI: 10.1093/brain/awac497 -
HCA Healthcare Journal of Medicine 2022Description Hallermann-Streiff syndrome is a rare genetic congenital disorder, with fewer than 200 cases reported to date, that is characterized by brachycephaly with...
Description Hallermann-Streiff syndrome is a rare genetic congenital disorder, with fewer than 200 cases reported to date, that is characterized by brachycephaly with frontal bossing, micrognathia, a "bird-like" beaked nose, microphthalmia with congenital cataracts, dental abnormalities, hypotrichosis, skin atrophy, and short stature. There is limited data on psychosis in individuals with Hallermann-Streiff syndrome; the information available depicts mania rather than psychosis. This case report reviews the presentation and treatment of psychosis in a 32-year-old male with Hallermann-Streiff syndrome who was involuntarily admitted to an inpatient psychiatric unit for persecutory delusions and hallucinations. The patient's psychosis responded well to risperidone with a resolution of psychosis and suicidal ideation in 6 days. Psychosis in individuals with Hallermann-Streiff syndrome appears to respond to a high-potency second-generation antipsychotic. Given this patient's early onset of psychosis and limited social/occupational impairment, it is unclear if psychosis is a component of Hallermann-Streiff syndrome or if he has comorbid schizophrenia or schizoaffective disorder, bipolar type.
PubMed: 37426871
DOI: 10.36518/2689-0216.1311 -
Journal of Postgraduate Medicine 1995A 3 day old female neonate with Hallerman Streiff Syndrome presented with white spots in both the eyes. Both eyebrows and eyelashes were found to be sparse. Anterior...
A 3 day old female neonate with Hallerman Streiff Syndrome presented with white spots in both the eyes. Both eyebrows and eyelashes were found to be sparse. Anterior chamber was found to be shallow. Total cataract was detected with posterior synechiae. Fundus could not be viewed. General examination revealed other features of Hallerman-Streiff Syndrome--short stature, bird like face, atrophy of skin and natal teeth. Lensectomy was carried out for left eye at the age of 10 weeks. However, the child had repeated respiratory tract infections and died at the age of 22 weeks.
Topics: Fatal Outcome; Female; Hallermann's Syndrome; Humans; Infant, Newborn
PubMed: 10740699
DOI: No ID Found -
Indian Journal of Ophthalmology Jul 1993
Topics: Aphakia; Female; Hallermann's Syndrome; Humans; Microphthalmos; Middle Aged; Nystagmus, Pathologic; Radiography; Skull; Vision Disorders
PubMed: 8262609
DOI: No ID Found -
Indian Pediatrics Feb 2005
Topics: Female; Hallermann's Syndrome; Humans; Infant
PubMed: 15767716
DOI: No ID Found -
Indian Journal of Dental Research :... 2012Hallermann-Streiff syndrome-also called occulomandibulofacial syndrome, Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome I, and...
Hallermann-Streiff syndrome-also called occulomandibulofacial syndrome, Francois syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome I, and Ullrich-Fremery-Dohna syndrome-is a rare genetic disorder, which comprisesmultiple congenital abnormalities affecting chiefly the head and face. It is characterized by bird-like facies, dental abnormalities, hypotrichosis, atrophy of skin, congenital cataracts, bilateral microphthalmia, and proportionate nanism. An interesting case of Hallermann-Streiff syndrome in a 23-year-old female patient is reported here, with the emphasis on the orodental findings.
Topics: Dental Caries; Dental Enamel Hypoplasia; Facies; Female; Hallermann's Syndrome; Humans; Mandible; Syndactyly; Temporal Bone; Temporomandibular Joint; Tooth Abnormalities; Young Adult
PubMed: 22842271
DOI: 10.4103/0970-9290.99063 -
Nature Communications May 2021Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied...
Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HSS). We used genome editing to generate isogenic iPSC lines and model HSS in relevant cell types. By combining genomics with functional in vivo and in vitro assays, we show that CHD6 binds a cohort of autophagy and stress response genes across cell types. The HSS mutation affects CHD6 protein folding and impairs its ability to recruit co-remodelers in response to DNA damage or autophagy stimulation. This leads to accumulation of DNA damage burden and senescence-like phenotypes. We therefore uncovered a molecular mechanism explaining HSS onset via chromatin control of autophagic flux and genotoxic stress surveillance.
Topics: Autophagy; Chromatin; Chromatin Assembly and Disassembly; DNA Damage; DNA Helicases; DNA-Binding Proteins; Epigenomics; Gene Editing; Gene Expression; Hallermann's Syndrome; Humans; Mutation; Nerve Tissue Proteins; Phenotype
PubMed: 34021162
DOI: 10.1038/s41467-021-23327-1 -
Eye (London, England) Sep 2016PurposeHallermann-Streiff-Francois syndrome (HSS) is a rare genetic disorder characterised by ocular and craniofacial anomalies. The purpose of this report is to...
PurposeHallermann-Streiff-Francois syndrome (HSS) is a rare genetic disorder characterised by ocular and craniofacial anomalies. The purpose of this report is to highlight the ophthalmological features in four such patients and outcomes of cataract surgery.Patients and methodsRetrospective review of medical records of patients with cataract and/or microcornea due to HSS was done. Presenting features, ocular findings, ocular motility and visual outcomes were noted.ResultsWe identified four children with microcornea/cataract who had associated clinical features suggestive of HSS. Mean age at presentation was 25.5±27.8 months. Three children presented with poor vision in both eyes and one with strabismus. All patients had a microcornea and microphthalmos. Three patients had a membranous cataract. Horizontal corneal diameter ranged from 5.5 to 10.5 mm and axial length ranged from 12 to 18 mm. Three patients had associated strabismus. Three patients underwent lens extraction and two underwent strabismus surgery. Best corrected visual acuity (BCVA) improved from fixing, following light to a median post-operative BCVA of 20/380. One eye developed retinal detachment.ConclusionChildren with HSS present with membranous cataracts, microcornea and microphthalmos and present surgical challenges. Though the patients were mostly left aphakic, all showed moderate visual improvement.
Topics: Cataract; Cataract Extraction; Child, Preschool; Corneal Diseases; Female; Hallermann's Syndrome; Humans; Infant; Male; Microphthalmos; Retrospective Studies; Strabismus; Vision Disorders; Visual Acuity
PubMed: 27472202
DOI: 10.1038/eye.2016.161 -
The Journal of Clinical Pediatric... 2005Hallerman Streif syndrome is a rare congenital disorder characterized by dyscephaly, dental anomalies, proportionate nazism, hypotrichosis, cutaneous atrophy limited to... (Review)
Review
Hallerman Streif syndrome is a rare congenital disorder characterized by dyscephaly, dental anomalies, proportionate nazism, hypotrichosis, cutaneous atrophy limited to the head, bilateral congenital cataracts and bilateral microphthalmia. Despite the marked craniofacial characteristics and oral findings, a relative lack of reports in the dental literature has been noted. In this article, a case of a 8 year old boy with dental problems is described.
Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Facies; Hallermann's Syndrome; Humans; Hypotrichosis; Male; Microphthalmos; Mouth Abnormalities; Tooth Abnormalities
PubMed: 16302604
DOI: 10.17796/jcpd.30.1.91036513g7u55705 -
Archives of Disease in Childhood Feb 1965
Topics: Cataract; Chromosomes; Congenital Abnormalities; Genetics, Medical; Hallermann's Syndrome; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Pathology
PubMed: 14259273
DOI: 10.1136/adc.40.209.57