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Cerebellotrigeminal Dermal Dysplasia

Cerebellotrigeminal-Dermal Dysplasia Syndrome


Presentation

  • In cases where it has been noted, head nodding is present. Hydrocephalus and enlargement of the ventricular system is consistently present. A reduced corpus callosum is present in some cases(agenesis of the corpus callosum).[en.wikipedia.org]
  • We report the second case with this condition who presented with consanguineous parents. This boy was evaluated shortly after birth because of suspected craniosynostosis.[ncbi.nlm.nih.gov]
  • We present an overview of the phenotypic features of all patients described to date. There are currently 12 unrelated patients reported in the literature, 5 of whom are Brazilian.[ncbi.nlm.nih.gov]
  • However, the dysmorphic signs including bilateral alopecia are already present in the neonatal period and are highly suggestive of GLHS. RS should be looked for in this situation.[ncbi.nlm.nih.gov]
  • Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common.[ncbi.nlm.nih.gov]
Short Stature
  • Other features include craniosynostosis, short stature, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly.[ncbi.nlm.nih.gov]
  • We herein describe the first Japanese patient with GLHS characterized by the standard triad with typical craniofacial anomaly including hypertelorism, brachyturricephaly and midface retrusion, and a short stature.[ncbi.nlm.nih.gov]
  • Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia.[orpha.net]
  • Gomez-Lopez-Hernandez syndrome, or cerebello-trigeminal-dermal dysplasia (OMIM#601853), is a rare syndrome comprising cerebellar abnormalities, parieto-occipital alopecia, trigeminal nerve anesthesia, intellectual impairment, craniosynostosis, short stature[ncbi.nlm.nih.gov]
  • Other typical findings are skull abnormalities, craniofacial dysmorphic signs, and short stature. Intellectual impairment is typical but cases with normal cognitive functions have also been reported.[ncbi.nlm.nih.gov]
Movement Disorder
  • Bonnet C, Roubertie A, Doummar D et al (2010) Developmental and benign movement disorders in childhood. Mov Disord epub June 18, 2010 Google Scholar 2.[doi.org]
Malingering
  • Citing Literature Number of times cited according to CrossRef: 17 Gustavo Malinger and Tally Lerman-Sagie, Cerebellar Anomalies, Obstetric Imaging: Fetal Diagnosis and Care, 10.1016/B978-0-323-44548-1.00037-1, (184-188.e1), (2018).[doi.org]
Low-Set Posteriorly Rotated Ears
  • He had brachyturricephaly, midface retrusion, low-set posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. No corneal anesthesia was observed; thus, demonstrating many of the diagnostic criteria of GLH.[ncbi.nlm.nih.gov]
  • He had brachyturricephaly, midface retrusion, lowset posteriorly rotated ears and bilateral parietal well circumscribed areas of alopecia. No corneal anesthesia was observed; thus, demonstrating many of the diagnostic criteria of GLH.[doi.org]
  • Associated clinical features include a characteristic facial appearance (mid-face hypoplasia, hypertelorism, and low-set, posteriorly rotated ears), brachycephaly, strabismus, ataxia, developmental delay, short stature, and corneal opacities.[readbyqxmd.com]
Corneal Opacity
  • Other features include craniosynostosis, short stature, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly.[ncbi.nlm.nih.gov]
  • The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities), and bilateral parietal or parieto-occipital alopecia.[ncbi.nlm.nih.gov]
  • Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia.[orpha.net]
  • Abstract Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation[ncbi.nlm.nih.gov]
  • opacities, and bilateral parietal or parietooccipital alopecia, However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010). (601853) Wikipedia : 77 Gomez-Lopez-Hernandez syndrome (GLH) or cerebellotrigeminal-dermal[malacards.org]
Head Banging
  • Head banging and head rocking, and other self-injurious behavior may occur as a result of pain insensitivity. Psychiatric problems may lead to increased risk of suicide. MRI is preferable to CT in demonstration of the cerebellar anomaly.[pediatricneurologybriefs.com]
Thin Lips
  • lips (3) short stature (4) variable intelletual impairment (5) ataxia (6) strabismus (7) clinodactyly (8) corneal opacities (secondary to trigeminal anesthesia and repeated microtraumas) References: Gomez MR.[meducator3.net]
  • People with Gomez-Lopez-Hernandez Syndrome often have a short skull(brachycephaly), thin lips, low-set and posterior-angled ears, and scalp alopecia above both ears.[en.wikipedia.org]
  • lip * Widely-spaced eyes * Smooth philtrum * Ear abnormalities * Inability to detect pain sensation on skin * Anteverted nostrils Causes - Craniosynostosis alopecia brain defect Not supplied.[checkorphan.org]
  • lips high arched palate low-set, rotated ears strabismus intellectual impairment ataxia seizures short stature and/or HGH deficient Emma exhibits ALL of these except for 3, 10, 13, and 15.[planetemmaclarissa.blogspot.com]
Short Neck
  • His examination was notable for turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set and posteriorly rotated ears, and short neck with redundant skin.[ncbi.nlm.nih.gov]
Hyperactivity
  • Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported.[orpha.net]
  • Hyperactivity first noted at 4 years of age was later associated with attention deficit disorder. Chromosomal analysis was normal. [ 1 ] COMMENT. The GLH syndrome is rare, only 8 cases reported.[pediatricneurologybriefs.com]
  • She had a history of motor delay, dysmorphic features, hyperactivity, unusual stereotypic movements of the head and self-injurious behaviour, facial scarring and parieto-occipital alopecia.[journals.lww.com]
Apraxia
  • Research of Gomez Lopez Hernandez Syndrome has been linked to Neurocutaneous Syndromes, Dysplasia, Congenital Absence, Apraxias, Mild Mental Retardation.[novusbio.com]
  • Sequence-Agenesis Of Corpus Callosum-Distinctive Facies-Developmental Delay Syndrome Congenital Tubular Stenosis Congenital Warfarin Syndrome Conotruncal Anomaly Face Syndrome (Ctaf) Constrictive Pericarditis-Dwarfism Syndrome Contractures-Muscle Atrophy-Oculomotor Apraxia[neo-genetics.com]
  • 479 179 color blindness, blue monocone-monochromatic 石切山 敏 481 180 colpocephaly 石切山 敏 483 181 congenital hypothalamic hamartoma syndrome 石切山 敏 484 182 contractures, congenital lethal Finnish type 石切山 敏 486 183 contractures-muscle atrophy-oculomotor apraxia[nippon-rinsho.co.jp]
Cerebellar Ataxia
  • Ancillary Article Information Format Available Full text: PDF Request Permissions Keywords symmetrical scalp alopecia; craniosynostosis; cerebellar ataxia; rhombencephalosynapsis Publication History Issue online: 6 December 1998 Version of record online[onlinelibrary.wiley.com]
  • كلمات كليدي: cerebellum , congenital , cranial nerve agenesis , ectodermal defect , ectodermal dysplasia , neurocutaneous syndrome , Cerebellar ataxia مخچه , مادرزادی , فقدان عصب , نقص اکتودرم , اکتودرمال دیسپلازی , سندرم neurocutaneous , آتاکسی مخچه[scipers.com]
Dysmetria
  • Along with ataxia comes a lack of coordination or ability to judge the distance of objects(dysmetria).[en.wikipedia.org]
Insomnia
  • Gomez-Lopez-Hernandez Syndrome is associated with irritability, anxiety, insomnia, and self-harming behavior. Developmental disabilities often present as intellectual disability with social, occupational, and learning disabilities.[en.wikipedia.org]

Workup

  • Little immunologic investigations were performed in our first case; however, in-depth immunology workup ensued with the presentation of the sibling.[kundoc.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • If you have questions about which treatment is right for you, talk to your healthcare professional.[rarediseases.info.nih.gov]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Treatment depends on the signs and symptoms present in each person.[malacards.org]
  • A-pattern strabismus has been reported in association with rhombencephalosynapsis in 3 patients who did not have focused imaging of their orbits. 4 Most orbital bands cannot be accessed during conventional strabismus surgery, but there have been reports of treatment[jamanetwork.com]

Prognosis

  • Prognosis - Craniosynostosis alopecia brain defect Not supplied.[checkorphan.org]
  • Several strategies are possible: - either emergency surgical repair, in the hours following birth, in order to improve the prognosis of the disease - either gradual reintegration of the loops by the placement, in the ICU, of a silastic ("silo") armed[sites.uclouvain.be]
  • Lung involvement : A bronchopulmonary disease is constant and the speed of its aggravation determines the prognosis. It appears before the age of 1 year in 90 % of cases.[sites.uclouvain.be]
  • […] aqueductal stenosis was present in 22 of 42 subjects and was strongly associated with the degree of cerebellar fusion  Other less common reported causes of hydrocephalus include: thalamic fusion and obstruction of 4 th ventricle by cerebellar tissue Prognosis[slideplayer.com]

Etiology

  • This case is unique because trigeminal nerve absence has not been suggested as a possible etiology for trigeminal anesthesia associated with GLHS.[ncbi.nlm.nih.gov]
  • The etiology of Gómez-López-Hernández syndrome is unknown.[ncbi.nlm.nih.gov]
  • Gómez-López-Hernández (GLH) syndrome or cerebello-trigeminal dysplasia is a neurocutaneous syndrome whose etiology is unknown at the present time. We report two additional Brazilian patients, including the oldest one known to date (age 29).[ncbi.nlm.nih.gov]
  • Gomez-Lopez-Hernandez syndrome and isolated rhombencephalosynapsis may have a common etiology.[ncbi.nlm.nih.gov]

Epidemiology

  • Khoeiniha, Epidemiology of Cerebellar Disorders, Development of the Cerebellum from Molecular Aspects to Diseases, 10.1007/978-3-319-59749-2_21, (423-463), (2017) ., Developmental malformations, Neurocutaneous Disorders, 10.1016/B978-3-437-24286-1.00002[doi.org]
  • Khoeiniha, Epidemiology of Cerebellar Disorders, Development of the Cerebellum from Molecular Aspects to Diseases, 10.1007/978-3-319-59749-2_21, (423-463), (2017).[doi.org]
  • Khoeiniha, Epidemiology of Cerebellar Disorders, Development of the Cerebellum from Molecular Aspects to Diseases, 10.1007/978-3-319-59749-2_21, (423-463), (2017) ., General aspects of aetiology, diagnostics and therapy, Neurocutaneous Disorders, 10.1016[doi.org]
  • Classically it was deemed that unlike omphalocele, the gastroschisis is rarely associated with other congenital anomalies but recent epidemiological data contradict this point: at least one associated malformation is observed in 32% of cases: - atresia[sites.uclouvain.be]
  • […] type II, type III and type IV Disease name: Welander distal myopathy ICD 10: G71.0 Synonyms: late adult onset type 1 distal myopathy; distal myopathy, Swedish type Similar articles: Naegeli-Franceschetti-Jadassohn Syndrome: Background, Pathophysiology, Epidemiology[syndrome.medicclub.info]
Sex distribution
Age distribution

Pathophysiology

  • Although this is currently a rare disease with a bleak outcome, each case can present us with an opportunity to learn more about the true pathophysiology.[kundoc.com]
  • For detailed information about rare diseases (pathophysiology, treatment options), treatment centres, and patient organisations, visit Orphanet (www.orpha.net) to find information about more than 5.000 rare diseases.[orphananesthesia.eu]
  • […] syndrome type I, type II, type III and type IV Disease name: Welander distal myopathy ICD 10: G71.0 Synonyms: late adult onset type 1 distal myopathy; distal myopathy, Swedish type Similar articles: Naegeli-Franceschetti-Jadassohn Syndrome: Background, Pathophysiology[syndrome.medicclub.info]

Prevention

  • And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • As soon as the baby is delivered, care management includes: - prevention of bacterial contamination, visceral injury and heat loss: the externalized abdominal content should be packed with warm sterile wet gauze sw wrapped in a plastic waterproof bag[sites.uclouvain.be]
  • Correct identification prevents unnecessary treatment to the areas of the scalp. Hair restoration surgery has been reported as a tool to treat this disorder. 6[mdedge.com]
  • Prevention - Craniosynostosis alopecia brain defect Not supplied.[checkorphan.org]
  • Treatment: ligation of esophageal varices, prevention of malnutrition, possibly liver transplantation.[sites.uclouvain.be]

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