scholarly journals A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report

2009 ◽  
Vol 3 (1) ◽  
Author(s):  
Khaled K Abu-Amero ◽  
Hesham Al-Dhalaan ◽  
Saeed Bohlega ◽  
Ali Hellani ◽  
Robert W Taylor
Author(s):  
CHAITHRA KALKUR ◽  
NILOFER HALIM ◽  
ANUSHA RANGARE ◽  
Rumisha .

Ectodermal dysplasia is a heterogeneous group of inherited disorder affecting two or more ectodermally derived tissues such as skin, hair, nails, eccrine glands and teeth. The disorder is of two types: Hypohydrotic ectodermal dysplasia/Christ seimens –Touraine syndrome and Hydrotic ectodermal dysplasia/clousten syndrome. Commonly associated signs include hypohidrosis, anomalous dentition, onychodysplasia, hypotrichosis. Multidisciplinary approaches are required for optimal treatment3. Here, we present two cases of 19 and 13 year old male siblings who were diagnosed with the disorder based upon their clinical features. Key Words: ectodermal dysplasia, hypodontia; anomalous dentition.


2019 ◽  
Vol 36 (1) ◽  
pp. 22-24 ◽  
Author(s):  
Ana Pessoa ◽  
José Quintela ◽  
Sofia Tavares ◽  
Marta Marques ◽  
Joana Pereira ◽  
...  

2021 ◽  
pp. 321-329
Author(s):  
Ji-In Seo ◽  
Min Kyung Shin

Lupus miliaris disseminatus faciei (LMDF) and granulomatous rosacea are 2 distinct inflammatory dermatoses with overlapping clinical features: reddish-yellow papular eruptions localized on the central face. Consequently, LMDF can easily be misdiagnosed as granulomatous rosacea or vice versa. Because delayed treatment in LMDF may increase chances of permanent scar formation, accurate diagnosis is important. We therefore analyzed published literature and case studies to organize the essential features differentiating LMDF from granulomatous rosacea. In addition, we report each case of LMDF and granulomatous rosacea for direct comparison.


1983 ◽  
Vol 4 (7) ◽  
pp. 225-230
Author(s):  
Marc Yudkoff ◽  
Fred Burg

This article is designed to give you an opportunity to learn how lactic acidosis affects children, and how to diagnose and treat a child with this disorder. The process we have utilized is an interactive one in which you will be presented with questions commingled with problems and discussion. CASE REPORT A 3-month-old male infant had been well until two days prior to admission, when he had developed fever, vomiting, and diarrhea. Initially the vomiting and diarrhea were mild, and a pediatrician recommended administration of clear liquids. On the day of admission the infant ate nothing at all, vomited every one to two hours, and had more than ten stools, all of which consisted primarily of water. The parents reported that by 5 PM the child became suddenly pale and his skin seemed cool, although when they took the rectal temperature it was 37.7 C(100 F). The baby became increasingly lethargic and limp. By 6 PM, when the parents rushed the child to the emergency room, he could not be awakened at all. The receiving physician in the emergency room found an unresponsive flaccid baby with a respiratory rate of 62 breaths per minute. A feeble pulse was 154 beats per minute and the rectal temperature was 38.1 C. The odor of acetone was apprent in the baby's breath.


2018 ◽  
Vol 4 (8) ◽  
pp. 789-793 ◽  
Author(s):  
Aaron R. Mangold ◽  
Collin M. Costello ◽  
Helen J.L. Cumsky ◽  
David J. DiCaudo ◽  
W. Leroy Griffing ◽  
...  

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