-
Taiwanese Journal of Obstetrics &... Sep 2008Fetuses with neural tube defects (NTDs) may suffer from associated syndromes and disorders. This article provides a comprehensive review of the syndromes and disorders... (Review)
Review
Fetuses with neural tube defects (NTDs) may suffer from associated syndromes and disorders. This article provides a comprehensive review of the syndromes and disorders associated with NTDs, including Pallister-Hall syndrome, Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy, MURCS association, Roberts syndrome, cerebro-costo-mandibular syndrome, laterality sequences, hydrolethalus syndrome, Knobloch syndrome, oculoauriculovertebral spectrum (hemifacial microsomia), cervico-oculo-acoustic syndrome, Fanconi anemia, Miller-Dieker lissencephaly syndrome, Fraser syndrome, frontonasal dysplasia, Adams-Oliver syndrome, CHILD syndrome, dyssegmental dysplasia, and monozygotic twinning. NTDs associated with these syndromes and disorders are a rare but important cause of NTDs. The risk of NTDs in subsequent fetuses and the preventive effect of maternal folic acid intake in NTDs associated with syndromes and disorders may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes and disorders associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.
Topics: Abnormalities, Multiple; Congenital Abnormalities; Female; Humans; Infant, Newborn; Male; Maternal Welfare; Neural Tube Defects; Pallister-Hall Syndrome; Perinatal Care; Pregnancy; Prognosis; Risk Assessment; Severity of Illness Index; Survival Analysis; Syndrome; Taiwan
PubMed: 18935987
DOI: 10.1016/S1028-4559(08)60122-9 -
Journal of Medical Genetics Feb 1995The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic...
The Pallister-Hall syndrome is characterised by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies including a diencephalic hamartoblastoma. The hallmarks of the McKusick-Kaufmann syndrome are hydrocolpos owing to vaginal atresia, postaxial polydactyly, imperforate anus, and congenital heart defects. We report a patient with the unique features of hydrocolpos, postaxial polydactyly, and hypothalamic hamartoblastoma and discuss the different aetiological considerations of both syndromes and implications for clinical management.
Topics: Abnormalities, Multiple; Anal Canal; Facial Bones; Female; Fingers; Hamartoma; Heart Defects, Congenital; Humans; Hydronephrosis; Infant; Polydactyly; Syndrome; Thalamic Diseases; Urethra; Vagina
PubMed: 7760322
DOI: 10.1136/jmg.32.2.125 -
Clinical Case Reports Aug 2022Pallister-Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young age when a hypothalamic hamartoma is associated with...
Pallister-Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young age when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations are mostly related to hypothalamic hamartoma and rarely reveal the disease. We report the case of an 18-year-old young man in whom the diagnosis of PHS was delayed until his hospitalization in the endocrinology department for acute adrenal insufficiency.
PubMed: 36017114
DOI: 10.1002/ccr3.6249 -
JA Clinical Reports Feb 2018Pallister-Hall syndrome is a rare disorder characterized by hypothalamic hamartoma, hypopituitarism, bifid epiglottis, and micrognathia.
BACKGROUND
Pallister-Hall syndrome is a rare disorder characterized by hypothalamic hamartoma, hypopituitarism, bifid epiglottis, and micrognathia.
CASE PRESENTATION
We describe the airway management under general anesthesia of a 15-year-old female with Pallister-Hall syndrome whose airway was compromised with bifid epiglottis and acquired subglottic stenosis. The three options considered for airway management were tracheal intubation, a supraglottic device, and surgical tracheotomy. Tracheal intubation provides a secured airway, but extubation can be difficult. A supraglottic device minimizes airway injury, but it does not completely protect the airway from aspiration.
CONCLUSIONS
The patient's airway was successfully managed using a supraglottic device with aspiration prophylaxis. Airway management devices should be selected according to each patients' individual circumstances.
PubMed: 32025855
DOI: 10.1186/s40981-018-0158-1 -
Journal of Developmental Biology Sep 2016The Hedgehog signalling pathway is evolutionarily highly conserved and essential for embryonic development of invertebrates and vertebrates. Consequently, impaired... (Review)
Review
The Hedgehog signalling pathway is evolutionarily highly conserved and essential for embryonic development of invertebrates and vertebrates. Consequently, impaired Hedgehog signalling results in very severe human diseases, ranging from holoprosencephaly to Pallister-Hall syndrome. Due to this great importance for human health, the focus of numerous research groups is placed on the investigation of the detailed mechanisms underlying Hedgehog signalling. Today, it is known that tiny cell protrusions, known as primary cilia, are necessary to mediate Hedgehog signalling in vertebrates. Although the Hedgehog pathway is one of the best studied signalling pathways, many questions remain. One of these questions is: How do primary cilia control Hedgehog signalling in vertebrates? Recently, it was shown that primary cilia regulate a special kind of proteasome which is essential for proper Hedgehog signalling. This review article will cover this novel cilia-proteasome association in embryonic Hedgehog signalling and discuss the possibilities provided by future investigations on this topic.
PubMed: 29615591
DOI: 10.3390/jdb4030027 -
Journal of Medical Genetics Jun 1997Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome include...
Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, imperforate anus, laryngeal clefting, and other anomalies. Here we describe the clinical characterisation of a family with 22 affected members and the genetic mapping of the corresponding locus. Clinical, radiographic, and endoscopic evaluations showed that this disorder is a fully penetrant trait with variable expressivity and low morbidity. By analysing 60 subjects in two families using anonymous STRP markers, we have established linkage to 7p13 by two point analysis with D7S691 resulting in a lod score of 7.0 at theta = 0, near the GLI3 locus. Deletions and translocations in GLI3 are associated with the Greig cephalopolysyndactyly syndrome. Although Greig cephalopolysyndactyly syndrome has some phenotypic overlap with Pallister-Hall syndrome, these two disorders are clinically distinct. The colocalisation of loci for these distinct phenotypes led us to analyse GLI3 for mutations in patients with Pallister-Hall syndrome. We have previously shown GLI3 mutations in two other small, moderately affected families with Pallister-Hall syndrome. The linkage data reported here suggest that these larger, mildly affected families may also have mutations in GLI3.
Topics: Abnormalities, Multiple; Anus, Imperforate; Chromosome Mapping; Female; Genes, Dominant; Genetic Linkage; Genetic Markers; Hamartoma; Humans; Hypothalamic Diseases; Infant; Larynx; Magnetic Resonance Imaging; Male; Pedigree; Phenotype; Polydactyly; Radiography; Syndrome
PubMed: 9192261
DOI: 10.1136/jmg.34.6.441 -
Epilepsia Jan 2005Hypothalamic hamartomas (HHs) have been associated with uncontrolled seizures, and aggressive therapy including surgery is often recommended. However, some patients,... (Comparative Study)
Comparative Study
PURPOSE
Hypothalamic hamartomas (HHs) have been associated with uncontrolled seizures, and aggressive therapy including surgery is often recommended. However, some patients, particularly those with other findings associated with Pallister-Hall syndrome (PHS), have a more benign course.
METHODS
Thirty-seven of 40 PHS patients and 16 of 16 patients with isolated HH had a lesion confirmed on magnetic resonance imaging (MRI). Records for all patients were reviewed for the following information: presence of seizures, age at seizure onset, seizure type, seizure frequency, number of antiepileptic medications (AEDs) at the time of evaluation, past AEDs, MRI characteristics of the HH, presence of endocrine dysfunction, and presence of developmental and behavioral problems.
RESULTS
All isolated HH patients had a history of seizures, compared with 13 of 40 PHS patients (all PHS patients with seizures had hamartomas). In isolated HH, seizures started earlier in life, occurred more frequently, and were harder to control than those in patients with PHS. Isolated HH patients were more likely to have behavioral and developmental problems than were PHS patients. The T2 signal of the hamartoma was isointense to gray matter in the majority of PHS patients, but showed a significant increase in all but one patient with isolated HH.
CONCLUSIONS
Patients with isolated HH have a distinct clinical phenotype, showing more severe seizures and neurologic dysfunction, HH showing increased T2 signal, and are more likely to have precocious puberty. In contrast, PHS patients usually have well-controlled seizures and other endocrine disturbances than precocious puberty. Patients with HH with or without seizures should be evaluated carefully for other clinical manifestations of PHS, particularly before surgery is considered.
Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Child; Child, Preschool; Diagnosis, Differential; Epilepsy; Female; Hamartoma; Humans; Hypothalamic Diseases; Infant; Magnetic Resonance Imaging; Male; Middle Aged; Phenotype; Puberty, Precocious; Seizures
PubMed: 15660767
DOI: 10.1111/j.0013-9580.2005.68303.x -
Bifid epiglottis, high-arched palate, and mental disorder in a patient with Pallister-Hall syndrome.Indian Journal of Anaesthesia Oct 2018
PubMed: 30443073
DOI: 10.4103/ija.IJA_317_18 -
Clinical Pediatric Endocrinology : Case... 2023Pallister-Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic pathogenic variant. A two-month-old infant was referred to...
Pallister-Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypical genitalia with postaxial polysyndactyly, a hypothalamic mass, and an imperforate anus. We identified a known pathogenic variant of the gene within one week and diagnosed the infant with PHS. The parents assigned the infant as male, considering the 46,XY karyotype, normal testosterone secretion, possible male identity, and the natural history of PHS. In infants with atypical genitalia and other malformations, such as polydactyly, a hypothalamic mass, or an imperforate anus, rapid testing may provide information for planning lifelong management, including sex assignment.
PubMed: 37020703
DOI: 10.1297/cpe.2022-0065 -
Frontiers in Neurology 2023Hypothalamic hamartoma (HH) is a rare intracranial disease whose manifestations include gelastic seizures and precocious puberty. The diagnosis and treatment of HH have...
BACKGROUND
Hypothalamic hamartoma (HH) is a rare intracranial disease whose manifestations include gelastic seizures and precocious puberty. The diagnosis and treatment of HH have changed substantially over the past three decades as medical care has improved. Bibliometrics can reveal the evolution and development of a scientific field.
METHODS
Documents on HH were retrieved from the Web of Science Core Collection (WoSCC) database on September 8, 2022. The search terms were as follows: "hypothalamic hamartoma" or "hamartoma of the hypothalamus" or "hypothalamic hamartomas." The types of documents were restricted to articles, case reports, and reviews. VOSviewer, CiteSpace, and the R package "bibliometrix" were used for a bibliometric analysis.
RESULTS
A total of 667 independent documents on HH were obtained from the WoSCC database. The most common types of documents were articles ( = 498, 75%) and reviews ( = 103, 15%). The number of annual publications fluctuated but showed an upward trend overall, and the annual growth rate was 6.85%. The cumulative publication data indicated that the most influential journals in the HH field include , , , , and the . Kerrigan JF, Ng YT, Rekate HL, Regis J, and Kameyama S were among the most prominent authors in the field of HH, with numerous publications and citations. American research institutions, especially the Barrow Neurological Institute, occupied a pivotal position in HH research. Other countries and institutions were catching up and producing considerable research results. Research on HH has steadily switched its emphasis from Pallister-Hall syndrome (PHS) and precocious puberty to epilepsy and new diagnostic and therapeutic techniques, including Gamma Knife, laser ablation, and interstitial thermal therapy.
CONCLUSION
HH remains a special neurological disease with significant research prospects. The development of novel technologies, including MRI-guided laser-induced thermal therapy (MRg-LiTT) and stereotactic radiofrequency thermocoagulation (RF-TC), has enabled the efficient treatment of gelastic seizures in HH while minimizing the risks associated with craniotomies. Through bibliometric analysis, this study points out the direction for future HH research.
PubMed: 37416311
DOI: 10.3389/fneur.2023.1176459