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Case Report: Duchenne Muscular Dystrophy in a 6-Year-Old Boy
Christin Natalia Kalembang,
I Gusti Ngurah Made Suwarba,
Dewi Sutriani Mahalini,
Herman Saputra
Issue:
Volume 5, Issue 3, September 2021
Pages:
41-45
Received:
3 May 2021
Accepted:
19 June 2021
Published:
25 June 2021
Abstract: Duchenne Muscular Dystrophy (DMD) is an X-link reccessive disorder, caused by mutation in dystrophin gene. Therefore body is incapable to synthesize dystrophin, the protein needed for muscle contraction. The incidence of DMD 1: 4000 male with age 3 to 5 years. Furthermore the patient will experience functional decline, loss of ambulation and early death due to cardiac or respiratory failure. Patient will be unable to walk at the beginning of second decade and usually decease at the age of 20s. Hereby we reported a male, 6-years-old presented with weakness on both of his legs. Patient had history of recurrent falls while walking and difficulty to climb stairs since 3-years-old. Patient also had difficulty to stand up immediately from sitting position. He had to grab his feet in order to make climb movement before stand up. Physical examination showed pseudo hypertrophy of calf muscle and positive Gower Maneuver. Laboratory examination showed creatinin kinase 16.891 (about 113 times higher than normal value). EMG revealed lesion of the muscle. Biopsy was taken from left muscle gastrocnemius and showed variability of muscle size without regeneration and fibrosis. The result of genetic test showed deletion of Dp427c and exon 1-2 of dystrophin gen. After been treated with corticosteroid for a year, the patient showed improvement in his gait moreover the weakness on both of his legs has became lessen. We emphasized the importance of early and accurate diagnosis of DMD for better quality of life.
Abstract: Duchenne Muscular Dystrophy (DMD) is an X-link reccessive disorder, caused by mutation in dystrophin gene. Therefore body is incapable to synthesize dystrophin, the protein needed for muscle contraction. The incidence of DMD 1: 4000 male with age 3 to 5 years. Furthermore the patient will experience functional decline, loss of ambulation and early ...
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Recurrence of Strokes and Associated Factors at Laquintinie Hospital in Douala
Paul-Cedric Mbonda,
Daniele Mafo,
Jacques Doumbe,
Callixte Kuate
Issue:
Volume 5, Issue 3, September 2021
Pages:
46-49
Received:
22 May 2021
Accepted:
17 June 2021
Published:
25 June 2021
Abstract: OVERVIEW: Stroke is the second leading cause of death in the world and the leading cause of non-traumatic disability in adults. Although the incidence of stroke has steadily declined in developed countries, the incidence in low- and middle-income countries like Cameroon continues to grow, accounting for 85% of the global burden of stroke. Whenever a stroke occurs, the patient, the patient's family and the physician want to know the risk of recurrence, its severity and the possibility of prevention. Few studies have focused on stroke recurrences and factors associated with Cameroon. OBJECTIVE: To determine the prevalence of recurrent stroke and the factors associated with Laquintinie Hospital in Douala. METHODOLOGY: We conducted a two-year retrospective study from January 1, 2016 to December 31, 2017 and five-month cross-sectional prospective from January 1, 2018 to May 31, 2018 at Laquintinie Hospital in Douala. Included were all patients hospitalized for stroke. RESULTS: We recruited 528 stroke patients, including 75 recidivists with a recurrence prevalence of 14.20%. The average age of recidivism was 65.82±12.75 years and 70.6% female. Factors statistically associated with recurrence were an antecedent of hypertension (OR=038 [0.152-0.98], P=0.045), the ischemic type of first stroke (OR=2.32 [1.04-5.17] P=0.04); females (OR=2.052 [1.20-3.4921]; P=0.007) and poor treatment compliance after first stroke (OR=0.399 [0.160-0.99] P=0.042). CONCLUSION: About 1 out of 6 (14.2%) survivors of a first stroke have recurrent stroke over the next 2 years at Laquintinie Hospital in Douala. The predictive factors for recurrence in this study were a history of hypertension, the ischemic type of stroke, female gender, and poor adherence to secondary prevention measures.
Abstract: OVERVIEW: Stroke is the second leading cause of death in the world and the leading cause of non-traumatic disability in adults. Although the incidence of stroke has steadily declined in developed countries, the incidence in low- and middle-income countries like Cameroon continues to grow, accounting for 85% of the global burden of stroke. Whenever ...
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A Rare Case of Multifocal Intracranial Gangliogliomas: Mimicking Tuberculomas
Akshay Vijay Kulkarni,
Gyani Jail Singh Birua,
Dhaval Gohil,
Manish Beniwal,
Dwarakanath Srinivas,
Shilpa Rao
Issue:
Volume 5, Issue 3, September 2021
Pages:
50-54
Received:
24 June 2021
Accepted:
16 July 2021
Published:
23 July 2021
Abstract: Gangliogliomas (GGs) are rare tumors of the central nervous system occurring in the young population (8.5-25 years). GGs are one of the most common cause of epilepsy associated with CNS tumors and significant proportion of them is refractory to antiepileptic medications. Multifocal gangliogliomas are very rare and only few handful cases are reported. A rare case of multiple spinal ganglioglioma has also been reported in the literature. We present a case of an adolescent girl who presented with multiple episodes of seizures. She was initially evaluated and diagnosed with multiple tuberculomas. She was managed with antiepileptics and antitubercular medications. Her seizure frequency had decreased; but despite prolonged and complete course of anti-tubercular treatment, the lesions were not subsiding in size. Antitubercular medications were restarted and subsequent scan showed progression in the size of the lesions; and hence biopsy was done from the largest lesion. Histopathology was suggestive of GG. Ganglioglioma can be multifocal and can mimic other lesions like tuberculosis, radiologically. Surgical excision of the lesion provides the best treatment option. It is still under consideration whether to remove all of the lesions or only ones with considerable size. She had another episode of seizure and is now planned for surgical excision of the other lesion.
Abstract: Gangliogliomas (GGs) are rare tumors of the central nervous system occurring in the young population (8.5-25 years). GGs are one of the most common cause of epilepsy associated with CNS tumors and significant proportion of them is refractory to antiepileptic medications. Multifocal gangliogliomas are very rare and only few handful cases are reporte...
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MTHFRC677T Polymorphism and Hyperhomocysteinemia in Ischemic Stroke Patients
Damelan Kombate,
Sirui Zhou,
Panabalo Waklatsi,
David Ksc Ahanogbe,
Komi Assogba,
Emile Kou’santa Amouzou,
Agnon Ayélola Koffi Balogou,
Guy Armand Rouleau
Issue:
Volume 5, Issue 3, September 2021
Pages:
55-59
Received:
27 January 2021
Accepted:
1 March 2021
Published:
18 August 2021
Abstract: Background: Homocysteine is an intermediate sulfur amino acid of methionine metabolism. Hyperhomocysteinemia, characterized by increased level of homocysteine, is an independent and modifiable vascular risk factor which metabolic pathway involves vitamins B6, folate and vitamin B12. Objective: We compared the prevalence of MTHFRC677T polymorphism, homocysteine folate and vitamin B12 in ischemic stroke patient’s subgroups. Methods: We conducted a cross-sectional analytical study. The study included 128 consecutive ischemic stroke patients associated with hyperhomocysteinemia. The MTHFRC677T polymorphism was investigated by TaqMan probes (thermos Fisher Scientific) combined with polymerase chain reaction (PCR). We compared the prevalence of MTHFRC677T polymorphism and homocysteine level in ischemic stroke patient’s subgroups. We adjusted the variable homocysteine level to the covariates, MTHFR polymorphism, folate and vitamin B12 with ANCOVA. Results: The sex ratio (men/women) was 1.5 with an average age of 60 years. The prevalence of MTHFRC677T polymorphism was 19.5% with 18% CT and 1.5% TT. Homocysteine level was 29.89 µmol/l in wildtype patients, 26.54 µmol/l in patients with CT genotype, and 56.17 µmol/l in patients with TT genotype (t=2.04, p=0.033, CI 95% [0.017; 0.407]). The MTHFR polymorphism prevalence, homocysteine, folate and vitamin B12 level did not differ between large brain infarction and multiple small brain infarction patients respectively (chi square: Qobs=0.05, p=0.94, 95% CI; ttest: t=0.716, df=126, p=0.475, 95% CI). Conclusion: The MTHFRT677T genotype increases homocysteine level. MTHFR polymorphism and homocysteine did not influence the subtypes of brain ischemic stroke.
Abstract: Background: Homocysteine is an intermediate sulfur amino acid of methionine metabolism. Hyperhomocysteinemia, characterized by increased level of homocysteine, is an independent and modifiable vascular risk factor which metabolic pathway involves vitamins B6, folate and vitamin B12. Objective: We compared the prevalence of MTHFRC677T polymorphism, ...
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Cerebral Venous Sinus Thrombosis in a 40-year-old Lady with JAK2-positive Polycythemia Vera: A Case Report
Maliha Hakim,
Mohammad Nur Uddin,
Fatema Ahmed,
Mashfiqul Hasan
Issue:
Volume 5, Issue 3, September 2021
Pages:
60-62
Received:
8 August 2021
Accepted:
23 August 2021
Published:
31 August 2021
Abstract: Cerebral venous sinus thrombosis (CVST) has a range of underlying cause. Here a case of CVST with an uncommon etiology is presented and discussed. A 40-year-old female presented with headache for 2 years and progressive visual loss for 4 months. She had conjunctival congestion and bilateral papilloedema with pale disc on right side. Computed tomography (CT) scans and contrast magnetic resonance imaging (MRI) of brain were normal but venography (MRV) revealed widespread thrombosis of dural sinuses including superior sagittal sinus. Cerebrospianal fluid (CSF) pressure was high (360 mm of H2O) while other CSF parameters were normal. She was polycythemic (hemoglobin 18.1 g/dl, hematocrit 60.2%), Bone marrow study revealed pan-myeloid hyperplasia whereas trephine biopsy revealed hypercellular marrow with trilineage expansion suggestive of myeloproliferative disorder possibly polycythemia vera. JAK-2 mutation was also detected. CVST has different patterns of presentations including isolated intracranial hypertension leading to visual loss. It is essential to identify and treat underlying condition like polycythemia vera.
Abstract: Cerebral venous sinus thrombosis (CVST) has a range of underlying cause. Here a case of CVST with an uncommon etiology is presented and discussed. A 40-year-old female presented with headache for 2 years and progressive visual loss for 4 months. She had conjunctival congestion and bilateral papilloedema with pale disc on right side. Computed tomogr...
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Sporadic Creutzfeldt - Jakob Disease: Case Report from a Neuroscience Institute in Bangladesh
Tareq Esteak,
Mohammad Bazlur Rashid,
Md. Ashrafuzzaman Khan,
Mohammad Nur Uddin,
Mashfiqul Hasan,
Paritosh Kumar Sarkar
Issue:
Volume 5, Issue 3, September 2021
Pages:
63-67
Received:
13 August 2021
Accepted:
3 September 2021
Published:
26 September 2021
Abstract: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder characterized by rapidly progressive dementia and myoclonus. Additional clinical features include visual disturbances, cerebellar, and pyramidal/extrapyramidal signs. The rarity of this disease and the wide variety of initial symptoms make the early diagnosis quite challenging. Nevertheless, it can also be diagnosed in a centre with limited resources through good clinical analysis. Here a case of a 53-year-old man is presented who had a 6 weeks history of cognitive deterioration and myoclonus. Brain magnetic resonance imaging (MRI) showed ribbon-like areas of hyperintensity in the bilateral cortex on diffusion-weighted imaging (DWI); bilateral hyperintense caudate nucleus and putamen on T2-weighted and Fluid-attenuated inversion recovery (FLAIR) images. Electroencephalogram (EEG) showed intermittent generalized periodic sharp waves of triphasic morphology. The diagnosis of probable sCJD was reached based on the clinical features and characteristic findings in his MRI and EEG according to WHO criteria. Several other works of the literature were also reviewed for early diagnosis of sCJD and for the exclusion of other differential diagnoses which may mimic sCJD.
Abstract: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder characterized by rapidly progressive dementia and myoclonus. Additional clinical features include visual disturbances, cerebellar, and pyramidal/extrapyramidal signs. The rarity of this disease and the wide variety of initial symptoms make the early diagnosis quite chall...
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Report of Salmonella Meningitis in 3-Month-Old Children
Meidry Tinasia Teslatu,
Dewi Sutriani Mahalini,
I Gusti Ngurah Made Suwarba
Issue:
Volume 5, Issue 3, September 2021
Pages:
68-71
Received:
19 August 2021
Accepted:
2 September 2021
Published:
27 September 2021
Abstract: Salmonella meningitis is a rare infection, unusual manifestation of salmonellosis and mostly among infants and young children. Meningitis due to Salmonella carries a higher morbidity and mortality than that caused by other bacteria. Salmonella is more commonly found in contaminated food and is included in gram-negative rods. The diagnosis is made based on the findings of Salmonella bacteria on cerebrospinal fluid (CSF). Salmonella meningitis therapy requires antimicroba that are able to penetrate the blood brain barrier and minimum treatment for at least 4 weeks to prevent death, recurrence and permanent adverse outcomes. Early diagnose of acute complications and a follow-up plans for early assessment of development are very important. Among survivors, common complications are seizure, hydrocephalus, subdural empyemas and permanent disabilities suc as retardation, paresis, athetosis and visual disturbances. We present a 3 months-old male with main complain seizure, fever, and bulging of fontanelle. Neurological examination found no abnormalities, no meningeal sign, physiologic reflex was normal and no sign of lateralization. Complete blood count found with normal leukocytes and mild anemia hypochromic microcytic. Cerebrospinal fluid (CSF) analysis showed positive Pandy and None tests, high cell count, low glucose level, high protein level. The results of CSF culture and blood culture found Salmonella sp. Head CT scan reveals subchronic subdural hygroma with brachycephaly. Patient treated with third generation of cephalosporins (ceftriaxone) for 4 weeks. Prompt use of targeted antibiotics with adequate dosage and duration plays a significant role on prognosis. Patient discharge form hospital with no sign of sequele and good prognosis.
Abstract: Salmonella meningitis is a rare infection, unusual manifestation of salmonellosis and mostly among infants and young children. Meningitis due to Salmonella carries a higher morbidity and mortality than that caused by other bacteria. Salmonella is more commonly found in contaminated food and is included in gram-negative rods. The diagnosis is made b...
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