scholarly journals GM1-gangliosidosis in a Nigerian infant: A case report

2021 ◽  
Vol 48 (1) ◽  
pp. 50-53
Author(s):  
Sakina M. Abdullahi ◽  
Hafsat W. Idris ◽  
Halima A. Sadiku ◽  
El-ishaq Abubakar

Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta-galactosidase (GLB11) resulting in the storage of the substrate- GM1 ganglioside in brain and visceral organs. GM1 gangliosidosis comprises three phenotypes, depending on the age of onset: an infantile, juvenile and adult type. In the infantile type dysmorphic features, severe psychomotor retardation, hepatosplenomegaly, bone changes and a cherry red spot in the macular region are seen. The juvenile GM1 gangliosidosis has no such external distinguishing features. In the adult type behavioural problems, dementia, extrapyramidal problems are specifically prominent. The authors present symptoms, clinical course and laboratory findings of a one-year-old boy with a diagnosed GM1 gangliosidosis. He presented with skin rashes since birth, delay in achievement of developmental milestones, progressive weight loss and recurrent diarrhoea of six-months duration.

Animals ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 810
Author(s):  
Maria Alfonsa Cavalera ◽  
Floriana Gernone ◽  
Annamaria Uva ◽  
Paola D’Ippolito ◽  
Xavier Roura ◽  
...  

Renal maldevelopment (RM) has been proposed to replace the old and sometimes misused term “renal dysplasia” in dogs. Although renal dysplasia has been described in Boxers, hereditary transmission has only been hypothesized. This study reports clinical and renal histological findings in Boxer dogs with RM, proposing a possible mode of inheritance. Medical records of 9 female Boxer dogs, older than 5 months and with a clinical diagnosis of chronic kidney disease prior to one year of age, were retrospectively reviewed. Polyuria and polydipsia (PU/PD), decreased appetite, weight loss, lethargy and weakness were described in all affected dogs. Common laboratory findings were proteinuria, diluted urine, non-regenerative anemia, azotemia, hyperphosphatemia, hypoalbuminemia and hypercholesterolemia. Histopathology of the kidneys revealed the presence of immature glomeruli in all dogs, which is consistent with RM. In 7 related dogs, the pedigree analysis showed that a simple autosomal recessive trait may be a possible mode of inheritance. Renal maldevelopment should be suspected in young Boxer dogs with a history of PU/PD, decreased appetite, weight loss, lethargy, weakness and proteinuria. Due to its possible inheritance, an early diagnosis of RM may allow clinicians to promptly identify other potentially affected dogs among the relatives of the diagnosed case.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 825.2-826
Author(s):  
M. Jansen ◽  
A. Ooms ◽  
T. D. Turmezei ◽  
J. W. Mackay ◽  
S. Mastbergen ◽  
...  

Background:In addition to cartilage degeneration, knee osteoarthritis (OA) causes bone changes, including cortical bone thickening, subchondral bone density decrease, and bone shape changes as a result of widening and flattening condyles and osteophyte formation. Knee joint distraction (KJD) is a joint-preserving treatment for younger (<65 years) knee OA patients that has been shown to reverse OA cartilage degradation. On radiographs, KJD showed a decrease in subchondral bone density and an increase in osteophyte formation. However, these bone changes have never been evaluated with a 3D imaging technique.Objectives:To evaluate cortical bone thickness, subchondral trabecular bone density, and bone shape on CT scans before and one year after KJD treatment.Methods:19 KJD patients were included in an extended imaging protocol, undergoing a CT scan before and one year after treatment. Stradview v6.0 was used for semi-automatic tibia and femur segmentation from axial thin-slice (0.45mm) CT scans. Cortical bone thickness (mm) and trabecular bone density (Hounsfield units, HU) were measured with an automated algorithm. Osteophytes were excluded. Afterwards, wxRegSurf v18 was used for surface registration. Registration data was used for bone shape measurements. MATLAB R2020a and the SurfStat MATLAB package were used for data analysis and visualization. Two-tailed F-tests were used to calculate changes over time. Two separate linear regression models were used to show the influence of baseline Kellgren-Lawrence grade and sex on the changes over time. Statistical significance was calculated with statistical parametric mapping; a p-value <0.05 was considered statistically significant. Bone shape changes were explored visually using vertex by vertex displacements between baseline and follow-up. Patients were separated into two groups based on whether their most affected compartment (MAC) was medial or lateral. Only patients with axial CT scans at both time points available for analysis were included for evaluation.Results:3 Patients did not have complete CTs and in 1 patient the imaged femur was too short, leaving 16 patients for tibial analyses and 15 patients for femoral analyses. The MAC was predominantly the medial side (medial MAC n=14; lateral n=2). Before treatment, the MAC cortical bone was compared to the rest of the joint (Figure 1). One year after treatment, MAC cortical thickness decreased, although this decrease of up to approximately 0.25 mm was not statistically significant. The trabecular bone density was also higher before treatment in the MAC, and a decrease was seen throughout the entire joint, although statistically significant only for small areas on mostly the MAC where this decrease was up to approximately 80 HU (Figure 1). Female patients and patients with a higher Kellgren-Lawrence grade showed a somewhat larger decrease in cortical bone thickness. Trabecular density decreased less for patients with a higher Kellgren-Lawrence grade, and female patients showed a higher density decrease interiorly while male patients showed a higher decrease exteriorly. None of this was statistically significant. The central areas of both compartments showed an outward shape change, while the outer ring showed inward changes.Conclusion:MAC cortical bone thickness shows a partial decrease after KJD. Trabecular bone density decreased on both sides of the joint, likely as a direct result of the bicompartmental unloading. For both subchondral bone parameters, MAC values became more similar to the LAC, indicating (partial) subchondral bone normalization in the most affected parts of the joint. The bone shape changes may indicate a reversal of typical OA changes, although the inward difference that was seen on the outer edges may be a result of osteophyte-related changes that might have affected the bone segmentation. In conclusion, KJD treatment shows subchondral bone normalization in the first year after treatment, and longer follow-up might show whether these changes are a temporary result of joint unloading or indicate more prolonged bone changes.Disclosure of Interests:None declared.


PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 953-959
Author(s):  
Naomi Amir ◽  
Joel Zlotogora ◽  
Gideon Bach

The clinical spectrum and developmental features of mucolipidosis type IV, a recessive lysosomal storage disorder, are presented. The evaluation was based on information from the clinical charts and information obtained from the families of 20 patients between the ages of 2 to 17 years. The clinical manifestations of the disease, profound psychomotor retardation and visual impairment, appear during the first year of life. Definitive diagnosis is made by electron microscopy which reveals storage organelles typical of the mucolipidoses. This study details, for the first time, the heterogeneity of the ophthalmologic features, specifically as pertains to the age of onset, degree and clinical course of the corneal opacities, and the retinal involvement. Although the top developmental level was found to be 12 to 15 months in language and motor function, the course of the disease is protracted for some children, who show only a slight improvement, and others, little if any deterioration despite the early infantile onset of the disease. This presentation provides guidelines for the clinical diagnosis of mucolipidosis type IV.


Stroke ◽  
2017 ◽  
Vol 48 (suppl_1) ◽  
Author(s):  
Malgorzata Miller ◽  
Nils Henninger ◽  
Renato Umeton ◽  
Agnieszka Slowik

Introduction: Mean platelet volume (MPV) is a marker of platelet function and elevated MPV was found to be an independent risk factor for death after myocardial infarct in patients with coronary artery disease. Higher MPV was associated with increased risk of ischemic stroke, yet there is insufficient data regarding the role of MPV as a marker of outcome in patients with ischemic stroke. The variability of platelet indices in humans is largely determined by genetic factors and rs7961894 located within intron 3 of WDR66 gene showed the strongest association with MPV in all genome wide association (GWA) studies in the European population. Aim: To determine the association of rs7961894 with MPV in patients with acute ischemic stroke and to assess whether rs7961894 and MPV could be markers of one year mortality in different stroke subtypes. Material and methods: For 426 adults with first-ever ischemic stroke MPV was measured within 72h of stroke onset and single nucleotide polymorphism genotyping of rs7961894 was performed accordingly (RT-PCR, Applied Biosystems). Epidemiologic and clinical characteristics (including TOAST classification), laboratory findings as well as one year mortality data were collected for each participant. Results: Allele T and genotypes CT and TT of the rs7961894 polymorphism were associated with the highest (>11.5fL) MPV quartile (Chi 2 test, p<0.01). MPV was significantly higher in patients with genotype TT as compared to CT and CC genotype (12.0±0.24fL vs. 11.10±0.15fL and 10.77±0.05fL, respectively, ANOVA, p <0.005 with Tukey HSD post-hoc test, Figure 1). Conclusions: Allele T of rs7961894 polymorphism is associated with increased MPV in the recessive and dominant model and patients with genotype TT have significantly higher MPV as compared to the rest of the population study. Further analysis is currently being conducted to determine the association of MPV and rs7961894 polymorphism with one year mortality and stroke subtypes.


2015 ◽  
Vol 3 (2) ◽  
pp. 25-30
Author(s):  
R Thapa

Objectives: To study relevant clinico-demographic profile and stressors of dissociative disorders.  Methods: this is a case control study of 39 cases of dissociative disorders and compared with 39 controls using a self designed questionnaire and G. Singh’s Presumptive Stressful Life Events Scale (PSLE). Results: The mean age of the cases was 21.23 years. Cases of Dissociative motor disorders had significantly higher age (26.4 yrs) as compared to dissociative convulsion (18.8 yrs) and dissociative stupor (20.6 yrs). (38.5%).Two thirds of the cases had comorbid neuro-psychiatric illness, the commonest one being depression (35.9%). The cases had more stressful life events in the past one year as well as whole life when compared to controls. Family conflict was seen to be the commonest precipitating stress.Conclusions: Dissociative disorder mainly affects young people. Dissociative motor disorder is a distinct subtype with a higher age of onset. Presence of neuro-psychiatric co-morbidity is the rule rather than exception. Psychosocial stressors play an important role in disease production.J Psychiatric Association of Nepal Vol .3, No.2, 2014, pp: 25-30DOI: http://dx.doi.org/10.3126/jpan.v3i2.12386 


2011 ◽  
Vol 44 (1) ◽  
pp. 26-29 ◽  
Author(s):  
Vicente Sperb Antonello ◽  
Vanice Ferrazza Zaltron ◽  
Marcela Vial ◽  
Flávio Mattos de Oliveira ◽  
Luiz Carlos Severo

INTRODUCTION: Histoplasmosis is a systemic mycosis endemic in Brazil, especially in the State of Rio Grande do Sul, where Histoplasma capsulatum was isolated from the soil. H. capsulatum may compromise unusual areas, including the oropharynx, particularly in patients presenting disseminated histoplasmosis; which is associated with a state of immunosuppression, such as AIDS. METHODS: During database analysis of a total of 265 cases of histoplasmosis, the medical records of 11 patients with histological or microbiological diagnoses of oral histoplasmosis (OH) between 1987 and 2008 were retrospectively reviewed. RESULTS: This work reports 11 cases of OH, the majority presenting histopathological or microbiological evidence of disseminated histoplasmosis (DH). In the patients with DH, OH was the first manifestation of histoplasmosis. Five of the 11 patients discussed were HIV-seropositive with clinical and laboratory findings of AIDS. Four patients presented active pulmonary tuberculosis concomitant with histoplasmosis. Treatment was based on the use of itraconazole and amphotericin B deoxycholate. Eight patients responded successfully to therapy after one year, two did not come back for reevaluation and one died despite adequate therapy. CONCLUSIONS: Oral histoplasmosis is closely associated with immunosuppression status, especially in patients presenting AIDS; moreover, in many cases, OH is the first sign of disseminated histoplasmosis.


Author(s):  
Mahtab Ordooei ◽  
Razieh Fallah ◽  
Fatemeh Abdi ◽  
Fahimeh Soheilipour

Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life. Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed. Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.


Open Medicine ◽  
2007 ◽  
Vol 2 (1) ◽  
pp. 37-46 ◽  
Author(s):  
Peterus Thajeb ◽  
Teguh Thajeb ◽  
Dao-Fu Dai

AbstractTo determine one-year clinical outcome of patients with first-ever acute ischemic stroke involving the territory of paramedian mesencephalic arteries (PMAS), we conducted a prospective study evaluating the cognitive functions of 28 patients with PMAS. Neuropsychological tests were performed during the first month of stroke onset and at the 12th month of follow-up. There were 12 women and 16 men. Mean age of onset for women and men was 70 years and 65 years, respectively. Progressing strokes occurred in 62% of patients and 96% developed a full-blown picture of the clinical triad of akinetic mutism, hypersomnolence, and bilateral blepharoptosis and ophthalmoparesis. Involuntary movements occurred in 6, and focal myoclonus in 4 patients. The top four associated risk factors were hypertension (68%), hyperlipidemia (57%), diabetes mellitus (46%), and atrial fibrillation (36%). Unilateral midbrain infarctions occurred in 12 patients and bilateral lesions in 16. Thalamic infarctions were unilateral in 10 and bilateral in 13 cases. Three of the 28 (11%) patients died of recurrent cerebral infarctions within 1 year of the onset of PMAS. The recurrent infarctions involved the basilar artery territory in two cases and the carotid system in another. One patient died of acute myocardial infarction. Of the 24 patients who had survived the stroke by 1 year, 20 (71%) developed dementia. We conclude that first-ever ischemic stroke with PMAS is not a benign syndrome. Most patients developed dementia by 1 year after the stroke.


1992 ◽  
Vol 7 (1_suppl) ◽  
pp. S31-S40 ◽  
Author(s):  
P.T. Ozand ◽  
G.G. Gascon

The clinical presentation and laboratory findings in seven patients with neonatal/infantile-onset galactosialidosis are presented. We detected no carboxypeptidase activity in two of these patients, while an enzyme with different apparent Km, or both Km and Vm, were found in five others. We could not establish a correlation between the biochemical characteristics of carboxypeptidase and the age of onset, progression, or other clinical features of galactosialidosis. (J Child Neurol 1992;7(Suppl):S31-S40).


1994 ◽  
Vol 61 (2) ◽  
pp. 151-153
Author(s):  
M. Marcellini ◽  
R. Cantiani ◽  
G. Mainiero ◽  
L Neri

The Authors report a case of vesical hemangioma; it was typical for site and clinical presentation whereas the age of onset and gross appearance were atypical. A TUR biopsy was performed without complications, but did not confirm diagnosis. A partial cystectomy was performed. A one-year follow-up, negative for recurrence, confirmed this procedure as the definitive treatment of choice.


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