Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures
Matineh Heidari,
Tara Khoeini,
Mostafa Almasi Dooghaee,
Omid Aryani,
Zahra Mirzaasgari
Issue:
Volume 6, Issue 1, March 2022
Pages:
1-5
Received:
1 October 2021
Accepted:
28 October 2021
Published:
12 January 2022
Abstract: HGPPS (horizontal gaze palsy with progressive scoliosis) presents in early childhood ages and one of the cardinal manifestations of the syndrome, progressive scoliosis, is the main disabling feature which usually seeks for orthopedic correction surgeries in early years. Nevertheless, the presence of scoliosis has not been explained yet by the pathogenesis of the disease, the ROBO3 mutation, which is a well-known pathology for gaze palsy by failure of axonal decussation toward the pontomedullary junction. This article highlights a novel case of HGPPS with prominent extrapyramidal findings including torticollis, cervical dystonia and facial spasm along with classic clinical, imaging and genetic correlation. Aiming to investigate the prevalence of extrapyramidal signs in this syndrome, the published cases of HGPPS in the literature have been reviewed in this study. 32% of all HGPPS cases between years of 1975 to 2020 founded to have one or more extrapyramidal features and the dystonia was the most reported sign which even proceed to the presence of scoliosis. Regarding to the fact that the scoliosis could be as a consequence of axial dystonia, its relationship to ROBO3 mutation can be explained by structural and functional changes toward the brainstem and cerebellum, which are involved in this syndrome and known to contribute with the extrapyramidal system. Knowing this possibility, not only could solve the 35-year mystery of scoliosis in the syndrome, but also would be considered as a target of treatment to prevent scoliosis in the future.
Abstract: HGPPS (horizontal gaze palsy with progressive scoliosis) presents in early childhood ages and one of the cardinal manifestations of the syndrome, progressive scoliosis, is the main disabling feature which usually seeks for orthopedic correction surgeries in early years. Nevertheless, the presence of scoliosis has not been explained yet by the patho...
Show More
Correlation Between Serum 25-hydroxyvitamin D Level and Cognitive Function Among the Elderly in Enugu State, Nigeria
Ezra Agbo,
Ifeyinwa Nnakenyi,
Collins Amadi,
Chituru Orluwene,
Chika Okwor,
Aloysius Aleke,
Chidozie Agu
Issue:
Volume 6, Issue 1, March 2022
Pages:
6-13
Received:
4 January 2022
Accepted:
19 January 2022
Published:
26 January 2022
Abstract: Background: Low serum vitamin D is now implicated in many disease conditions among the elderly including cognitive impairment. Cognitive impairment is a common disease among elderly people causing much financial and social burden to the elderly, their families and caregivers. Therefore, the study aimed to determine the relationship between serum 25-hydroxyvitamin D (25(OH)D) concentration and cognitive function among elderly people in Enugu State, South-eastern Nigeria. Methods: This was a cross-sectional survey of subjects aged ≥ 60 years with cognitive impairment in communities and old People’s home in Enugu State in Nigeria and age- and sex-matched controls. The subjects were further divided into those with severe cognitive impairment and those with mild cognitive impairment using the Mini-Mental State Examination (MMSE). Serum 25(OH)D and parathyroid hormone (PTH) were assayed by enzyme-linked immune-sorbent assay while serum calcium, inorganic phosphate, and albumin were determined using the spectrophotometric method. Student t-test was used to compare mean values obtained, while Pearson correlation was used to determine relationships between continuous data. A p-value<0.05 was considered to be statistically significant. Result: One hundred and four (104) patients comprising of 58 males and 46 females were recruited for the current study. Among the study subjects compared to those of the controls, there were significantly decreased levels of serum 25(OH)D (p=0.0001) and the adjusted calcium (p=0.0001) concentrations but significantly increased level of serum PTH (p=0.0001) and inorganic phosphate (p=0.005) concentrations. Also, the mean values of serum 25(OH)D and adjusted calcium were significantly lower, serum PTH values were significantly higher while serum inorganic phosphate concentrations showed no significant difference for those with severe cognitive impairment when compared to values of those with mild cognitive impairment and controls. Additionally, there was also significant positive correlations between serum 25(OH)D and cognitive function (r=0.504, ρ<0.05). Conclusion: The study findings suggest that decreased serum Vitamin D concentration is associated with diminished cognitive function among the elderly and vice versa. Hence, the determination of Vitamin D status among elderly patients presenting with impairment of cognitive function is highly recommended. However, further studies are needed to validate findings from the present study.
Abstract: Background: Low serum vitamin D is now implicated in many disease conditions among the elderly including cognitive impairment. Cognitive impairment is a common disease among elderly people causing much financial and social burden to the elderly, their families and caregivers. Therefore, the study aimed to determine the relationship between serum 25...
Show More
Neurological Disorders in the Neurology Department of the General Hospital of Loandjili Pointe-Noire (Congo)
Prince Eliot Galieni Sounga Bandzouzi,
Ghislain Armel Mpandzou,
Carl Harvey Mialoudama,
Raïssa Mayanda,
Josué Euberma Diatewa,
Dina Happia Motoula-Latou,
Rolf Bakoudissa,
Saurel Ngassaki,
Charles Godefroy Koubemba,
Paul Macaire Ossou-Nguiet
Issue:
Volume 6, Issue 1, March 2022
Pages:
14-18
Received:
7 January 2022
Accepted:
24 January 2022
Published:
9 February 2022
Abstract: Background: Neurological pathologies are frequent in sub-Saharan Africa. They are responsible for significant morbidity and mortality throughout the world and particularly in African countries. Objective: Define the epidemiological, clinical and evolutionary profile of patients hospitalized in Neurology. Methodology: We conducted a descriptive cross-sectional study for 24 months from January 1, 2020 to December 31, 2021 in the neurology department of Loandjili General Hospital in Pointe Noire, including patients hospitalized for a neurological condition. The data studied were epidemiological, clinical and evolutionary. Results: Seven hundred and thirty four patients were hospitalized during the study period. The average age of our patients was 57.28 years with a predominance of men and a sex ratio of 1.1. The mean time to admission to neurology was 7±25 days. Hypertension (66.9%) was the most common medical history. The main causes were vascular (87.6%) and infectious (8.7%). The mean hospital stay was 8.67±5.39 days. Conclusion: Neurological diseases constitute a real public health problem, in particular neurovascular and infectious pathology, which remain the main activity of our service. Thus, knowledge of these data will improve patient care.
Abstract: Background: Neurological pathologies are frequent in sub-Saharan Africa. They are responsible for significant morbidity and mortality throughout the world and particularly in African countries. Objective: Define the epidemiological, clinical and evolutionary profile of patients hospitalized in Neurology. Methodology: We conducted a descriptive cros...
Show More
