Advertisement

Topics

Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.

Summary of "Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria."

Gómez-López-Hernández syndrome (GLHS) is a rare and possibly underdiagnosed condition. So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients. 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. Our patients had rhombencephalosynapsis and alopecia, but none had trigeminal dysfunction. In this respect, the term cerebellotrigeminal dermal dysplasia is potentially misleading. In conclusion, only rhombencephalosynapsis and alopecia are consistently present in GLHS and are required diagnostic criteria, while trigeminal anesthesia, dysmorphic features, and ataxia are inconsistent findings. A high index of suspicion is required to diagnose GLHS, particularly as alopecia tends to be hidden by surrounding scalp hair.

Affiliation

Department of Pediatric Neurology, "Arabkir" Joint Medical Center and Institute of Child and Adolescent Health, Yerevan, Armenia.

Journal Details

This article was published in the following journal.

Name: European journal of pediatrics
ISSN: 1432-1076
Pages:

Links

DeepDyve research library

PubMed Articles [11206 Associated PubMed Articles listed on BioPortfolio]

A Validation Study of the International Consensus Diagnostic Criteria for Neuroleptic Malignant Syndrome.

Neuroleptic malignant syndrome requires prompt recognition for effective management, but there are no established diagnostic criteria. This is the first validation study of recently published internat...

Association of Urinary Activity of MMP-2 with Microalbuminuria in an Isolated Sample of Subjects Living in High Altitude Rural Locations in México.

Hernández-Hernández, Magda Elena, Jaime Morales-Romero, Clara Luz Sampieri, Diego Jesús Luna Lozano, Isidra del Carmen Valencia Lezama, Mónica Janett Muñoz Contreras, and Arturo Rodríguez Herná...

Diagnostic criteria for Susac syndrome.

Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment of the diagnosis is often dela...

Examining the diagnostic utility of the DSM-5 PTSD symptoms among male and female returning veterans.

Posttraumatic stress disorder (PTSD) diagnostic criteria have been criticized for including symptoms that overlap with commonly comorbid disorders, which critics argue undermines the validity of the d...

Cognitive Costs of Reappraisal Depend on Both Emotional Stimulus Intensity and Individual Differences in Habitual Reappraisal.

Recent models of emotion regulation suggest that the cognitive costs of reappraisal depend on stimulus intensity and habitual reappraisal. In the current experiment, we tested these hypotheses by mani...

Clinical Trials [6041 Associated Clinical Trials listed on BioPortfolio]

Mindful Positive Reappraisal: a Daily Diary Randomized Controlled Trial

Brief and cost-effective interventions teaching emotion regulation techniques can be feasibly applied to promote mental health in University students. The tools of mindfulness (i.e., objec...

Eosinophilic Granulomatosis With Polyangiitis Cohort

EGPA (Eosinophilic Granulomatosis with Polyangiitis, previously Churg-Strauss syndrome) is a rare vasculitis, characterised by asthma, rhinosinusitis and eosinophilia. There has previously...

Evaluation and Characterization of Behavioural Disorders and Dementias by the Behavioural Dysexecutive Syndrome Inventory (BDSI)

Behavioural disorders are very common right from the initial stage of dementia and contribute to loss of autonomy. Behavioural dysexecutive disorders have a particular status due to their ...

Phase III Clinical Trial of NPB-01 in Patients With Stevens-Johnson Syndrome/ Toxic Epidermal Necrolysis Unresponsive to Corticosteroids.

Patients diagnosed with Stevens-Johnson syndrome and Toxic Epidermal Necrolysis were confirmed based on the investigators national diagnostic criteria. Patients who meet all inclusion crit...

Serum Anti-mullerian Hormone and Polycystic Ovarian Syndrome

In 1935 the polycystic ovary syndrome was a clinical diagnosis made on the morphological appearance of the ovaries in association with amenorrhoea, hirsutism and frequently obesity. At tha...

Medical and Biotech [MESH] Definitions

Levels of severity of illness within a diagnostic group which are established by various measurement criteria.

Categorical classification of MENTAL DISORDERS based on criteria sets with defining features. It is produced by the American Psychiatric Association. (DSM-IV, page xxii)

Criteria and standards used for the determination of the appropriateness of the inclusion of patients with specific conditions in proposed treatment plans and the criteria used for the inclusion of subjects in various clinical trials and other research protocols.

A noninvasive diagnostic technique that enables an experienced clinician to perform direct microscopic examination of the surface and architecture of pigmented SKIN lesions. The four major dermoscopic criteria are ABCD: asymmetry (A), borders (B), colors (C), and different structural components (D) providing a semiquantitative scoring system for each lesion.

Pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.

Quick Search
Advertisement
 


DeepDyve research library

Relevant Topics

Anesthesia
Anesthesia is the loss of feeling or sensation in all or part of the body. It may result from damage to nerves or can be induced by an anesthetist (a medical professional) using anesthetics such as thiopental or propofol or sevoflurane during a surgical ...

Urology
Benign Prostatic Hyperplasia (BPH) Erectile Dysfunction Urology Urology is the branch of medicine concerned with the urinary tract and diseases that affect it. Examples include urethritis, urethrostenosis and incontinence. Urology is a su...

Anesthesiology
An anesthesiologist (US English) or anaesthetist (British English) is a physician trained in anesthesia and perioperative medicine. Anesthesiologists are physicians who provide medical care to patients in a wide variety of (usually acute) situations. ...


Searches Linking to this Article