Results 11 to 20 of about 1,071 (127)

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis. [PDF]

Australas J Dermatol
ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
So N, Yip L, Orchard D.
europepmc   +2 more sources

Severe Shock Caused by Rupture of Bladder Diverticulum in a Patient With Menkes Disease: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Menkes disease (MD) is an X‐linked copper metabolism disorder associated with bladder diverticula (BD). BD in MD may easily perforate more than common BD because of connective tissue damage. Since BD rupture can be fatal, large or multiple BD in MD require careful management, including prophylactic resection.
Fujii S, Masumoto K, Jimbo T, Shibui Y, Kido T, Hitaka D, Takada H.   +6 more
europepmc   +2 more sources

Giant Bladder Diverticulum in A Female Infant Mimicking Intraperitoneal Mass. [PDF]

Clin Case Rep
ABSTRACT Urinary bladder diverticula can be either primary (congenital) or secondary (acquired) and are more commonly observed in males, sometimes in association with syndromes. The condition presents with a wide range of symptoms, while some cases may remain asymptomatic.
Lodhia J, Suleman M, Chugulu S, Chilonga K, Msuya D.   +4 more
europepmc   +2 more sources

Familial adult myoclonus epilepsy: Neuroimaging and neuropathological findings

Epilepsia, Volume 64, Issue S1, Page S47-S51, June 2023., 2023
Abstract Familial adult myoclonus epilepsy (FAME) is characterized by cortical myoclonus and often epileptic seizures, but the pathophysiology of this condition remains uncertain. Here, we review the neuroimaging and neuropathological findings in FAME. Imaging findings, including functional magnetic resonance imaging, are in line with a cortical origin
Anne‐Fleur van Rootselaar, Sirio Cocozza, Eleonora Aronica, Pasquale Striano   +3 more
wiley   +1 more source

Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

Journal of the European Academy of Dermatology and Venereology, Volume 36, Issue 7, Page 973-986, July 2022., 2022
Abstract The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life‐threatening underlying disease.
E. Cuperus, A. Bygum, L. Boeckmann, C. Bodemer, M.C. Bolling, M. Caproni, A. Diociaiuti, S. Emmert, J. Fischer, A. Gostynski, S. Guez, M.E. van Gijn, K. Hannulla‐Jouppi, C. Has, A. Hernández‐Martín, A.E. Martinez, J. Mazereeuw‐Hautier, M. Medvecz, I. Neri, V. Sigurdsson, K. Suessmuth, H. Traupe, V. Oji, S.G.M.A. Pasmans   +23 more
wiley   +1 more source

Multiple Bladder Diverticula Presenting in an 82‐Year‐Old Congolese Male

Case Reports in Surgery, Volume 2022, Issue 1, 2022., 2022
Bladder diverticulum is a congenital malformation characterized by the outpouching of the bladder following an obstruction of urine flux. We present a case of 82‐year‐old Congolese male patient presented at our facility with a poor urinary stream and lower abdominal pain.
Jean de Dieu Tumusifu Manegabe, Daniel Safari Nteranya, Ghislain Maheshe Balemba, Fabrice Cikomola Gulimwentuga, Paul Budema Munguakonkwa, Paterne Safari Mudekereza, Bijou Safi Matabaro, Alliance Wani Bisimwa, Franck Masumbuko Mukamba, Georges Kuyigwa Toha, Kizito Mutuga Centwali, Costa Sudi Musilimu, Zénon Kuyigwa, Alain Kabakuli Namugusha, Wani Mulumekandi Rugarabura, Léon-Emmanuel Mubenga Mukengeshai, Elisabetta Costantini   +16 more
wiley   +1 more source

Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome

Case Reports in Pediatrics, Volume 2021, Issue 1, 2021., 2021
Children with Menkes disease may develop various urological and renal problems that evolve as the disease progresses. A 4‐year‐old boy with Menkes disease had multiple bladder diverticula and a history of recurrent urinary tract infection caused by urea‐splitting organisms. The child developed urosepsis and right pyelonephritis.
Wun Fung Hui, Kam Lun Hon, Alexander K. C. Leung, Kristine Kit Yi Pang, Michael Wai Yip Leung, Pannee Visrutaratna   +5 more
wiley   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. [PDF]

Epileptic Disord
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M.   +7 more
europepmc   +2 more sources

Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)

Molecular Genetics &Genomic Medicine, Volume 7, Issue 8, August 2019., 2019
Koolen‐de Vries syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X‐linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency and may present with hypotonia and abnormal ...
Taylor Woodfin, Christine Stoops, Joseph B. Philips III, Edward Lose, Fady M. Mikhail, Anna Hurst   +5 more
wiley   +1 more source

Metabolic etiologies in West syndrome

Epilepsia Open, Volume 3, Issue 2, Page 134-166, June 2018., 2018
Summary West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments.
Seda Salar, Solomon L. Moshé, Aristea S. Galanopoulou   +2 more
wiley   +1 more source