scholarly journals Early infantile form of Krabbe disease: a case report

2021 ◽  
Vol 9 (1) ◽  
pp. 123
Author(s):  
K. Venkataramana Reddy ◽  
Chapay Soren ◽  
M. Geethika ◽  
N. Dharani ◽  
K. Sruthi Reddy

A 7-month-old female child, born to 2nd degree consanguineous marriage brought with complaints of gross developmental delay. Her examination revealed spasticity in all 4 limbs with brisk deep tendon reflexes with intact primitive reflexes and exaggerated startle reflex. Her MRI brain showed demyelination signs in bilateral thalami, dentate hila, and thickened optic chaisma. Age of presentation, clinico-radiological findings were suggestive of early infantile form of Krabbe disease.  

Author(s):  
Ravishankar Pillenahalli Maheshwarappa ◽  
Juhi Bansal

Larsen syndrome is a rare congenital osteochondrodysplasia resulting in multiple joint dislocations and typical facial features. The inheritance pattern can be autosomal dominant or recessive, with the recessive pattern being more severe. This condition requires prolonged orthopaedic treatment and achievement of complete normal function is unlikely. The author hereby present a case report of three-year-old female child with this syndrome which was diagnosed by clinical examination and radiological findings.


Author(s):  
Sagar Alwadkar ◽  
Mayur B. Wanjari ◽  
Pratibha Wankhede ◽  
Deeplata Mendhe

Introduction: Cerebral palsy is a term used to describe a range of diseases caused by non-progressive brain injury that occurs before, during, or after birth. There are numerous causes. Although the brain damage does not change and cannot be cured, the symptoms may change over time. Case Presentation: Here we discuss a 10-year-old female child with a complaint of involuntary movement of hand legs from the morning with another complaint of cough, cold, fever from 4 days. After undergone a thorough investigation and physical examination made the final diagnosis was Cerebral Palsy with Gross Developmental Delay with Lower Respiratory Infection with Hypoxia (80%). The case report aims to help diagnose such type of case and help to get early treatment with management. Conclusion: In this case report, we mainly focus on patient signs and symptoms. According to that deliver medical and nursing management. After being given medical and nursing management patient's condition was improving.


JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Charity Wiafe Akenten ◽  
Kennedy Gyau Boahen ◽  
Kwadwo Sarfo Marfo ◽  
Nimako Sarpong ◽  
Denise Dekker ◽  
...  

Abstract Background The increasing incidence of multi-antibiotic-resistant bacterial infections, coupled with the risk of co-infections in malaria-endemic regions, complicates accurate diagnosis and prolongs hospitalization, thereby increasing the total cost of illness. Further, there are challenges in making the correct choice of antibiotic treatment and duration, precipitated by a lack of access to microbial culture facilities in many hospitals in Ghana. The aim of this case report is to highlight the need for blood cultures or alternative rapid tests to be performed routinely in malaria patients, to diagnose co-infections with bacteria, especially when symptoms persist after antimalarial treatment. Case presentation A 6-month old black female child presented to the Agogo Presbyterian Hospital with fever, diarrhea, and a 3-day history of cough. A rapid diagnostic test for malaria and Malaria microscopy was positive for P. falciparum with a parasitemia of 224 parasites/μl. The patient was treated with Intravenous Artesunate, parental antibiotics (cefuroxime and gentamicin) and oral dispersible zinc tablets in addition to intravenous fluids. Blood culture yielded Acinetobacter baumanii, which was resistant to all of the third-generation antibiotics included in the susceptibility test conducted, but sensitive to ciprofloxacin and gentamicin. After augmenting treatment with intravenous ciprofloxacin, all symptoms resolved. Conclusion Even though this study cannot confirm whether the bacterial infection was nosocomial or otherwise, the case highlights the necessity to test malaria patients for possible co-infections, especially when fever persists after parasites have been cleared from the bloodstream. Bacterial blood cultures and antimicrobial susceptibility testing should be routinely performed to guide treatment options for febril illnesses in Ghana in order to reduce inappropriate use of broad-spectrum antibiotics and limit the development of antimicrobial resistance.


2020 ◽  
Vol 11 (1) ◽  
pp. 21
Author(s):  
Claudia Brogna ◽  
Valentina Milano ◽  
Barbara Brogna ◽  
Lara Cristiano ◽  
Giuseppe Rovere ◽  
...  

The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first time a case of a 23-year-old patient affected by de novo partial 13q22.1q34 trisomy (41.7 Mb, 72,365,975-114,077,122x3) presenting with hemiparesis related to both ischemic and haemorrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.


2021 ◽  
Vol 132 (2) ◽  
pp. S24
Author(s):  
Magdalena Cerón-Rodriguez ◽  
Daniela Castillo-García ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Patricia Baeza-Capetillo ◽  
Jesús Aguirre-Hernández

2015 ◽  
pp. 20150057
Author(s):  
A Abdullah ◽  
P Entezami ◽  
L Halpin ◽  
J Feldmeier ◽  
R E Mrak ◽  
...  

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