scholarly journals Imaging manifestations of juvenile hyaline fibromatosis: A case report and literature review

2022 ◽  
Author(s):  
Jinfen Yu ◽  
Wang Linsheng ◽  
Tian Jing ◽  
Yu Xuewen ◽  
Lixin Sun
Keyword(s):  
Skeletal Muscle ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Juvenile Hyaline Fibromatosis ◽  
Autosomal Recessive Condition ◽  
Hypointense Signal ◽  
Head Neck ◽  
Chromosome 4Q21 ◽  
Hyaline Material

Objective: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 8-year-old male (case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were nonconsanguineous. Results : JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

scholarly journals Siblings with megalencephalic leukoencephalopathy with subcortical cysts van der Knaap disease

2021 ◽  
pp. 20200150
Author(s):  
Saanida M P ◽  
Lin Varghese ◽  
Rinu Susan Thomas ◽  
Sandeep Govindan Prasad
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Turkish Population ◽  
Imaging Features ◽  
Imaging Findings ◽  
Temporal Lobes ◽  
Parietal Lobes ◽  
Autosomal Recessive Condition ◽  
And Diffusion ◽  
Subcortical Cysts

Cerebral leukoencephalopathy and megalencephaly with subcortical cysts (also known as van der Knaap disease) is an autosomal recessive condition. The disease was initially described in India and Netherlands independently and seems to have highest incidence in Indian Agrawal community and Turkish population. 1 The objective of this study is to document the case of two siblings with this condition, from a non-Agrawal Indian community and briefly describe the imaging features of this condition. Two siblings, born out of a third-degree consanguineous marriage, with simple focal seizures were subjected to MRI with diffusion-weighted imaging and spectrometry. The findings were compared to diseases with similar clinical presentation. Subcortical cysts initially involving anterior temporal lobes and subsequently frontal and parietal lobes, sparing of central white mater, small N acetyl aspartate peak and diffusion facilitation were the imaging findings. The imaging findings were consistent with the diagnosis of the rare genetic disorder- Cerebral leukoencephalopathy and megalencephaly with subcortical cysts.

scholarly journals Case report on laurence moon biedyl syndrome

2017 ◽  
Vol 6 (4) ◽  
pp. 1001 ◽  
Author(s):  
Hemalatha P. ◽  
Chaitanya Deepthi R. ◽  
Udayalakshmi K. ◽  
Nirmala G. ◽  
Lakshmi P.
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Renal Dysfunction ◽  
Autosomal Recessive ◽  
Wide Spectrum ◽  
Retinal Dystrophy ◽  
Male Hypogonadism ◽  
Autosomal Recessive Condition ◽  
Characteristic Features ◽  
Criteria For Diagnosis

Laurence moon Biedyl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. The accepted major criteria for diagnosis include retinal dystrophy, obesity, Polydactyly, male hypogonadism, mental retardation and renal dysfunction. We have presented a 36 year old male patient exhibiting characteristic features of Laurence moon Biedyl syndrome and then the literature is reviewed.

JOB'S SYNDROME: A RARE CASE REPORT

2021 ◽  
pp. 34-35
Author(s):  
Eshwar Rajesh ◽  
Shakuntala T
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Elevated Serum ◽  
Deciduous Teeth ◽  
Job’S Syndrome ◽  
Rare Case Report ◽  
Tissue Abnormalities ◽  
Job's Syndrome ◽  
Shed Light

Hyper IgE Syndrome (HIES) or Job's Syndrome is a complex primary immunodeciency disorder characterized by elevated serum IgE levels, recurrent skin rashes, eosinophilia, skeletal and connective tissue abnormalities. The patients also exhibit features of specic facies, retention of deciduous teeth and susceptibility to infections. HIES is a rare genetic disorder where some cases are inherited as autosomal dominant or autosomal recessive but most cases are supposedly sporadic. Hereby we present a case of 12-year-old male child admitted in the hospital with complaints of fever, skin rashes, intermittent abdominal pain and generalised lymphadenopathy. As there is no denite cure for HIES, the approach was directed towards conservative management. Due to the extreme paucity of reported cases in literature, this case report can help shed light on a syndrome of such rarity.

Megaloblastic Anemia Characterized by Microcytosis: Imerslund-Grasbeck Syndrome With Coexistent α-Thalassemia

PEDIATRICS ◽  
1988 ◽  
Vol 81 (6) ◽  
pp. 875-876
Author(s):  
CAROLYN L. RUSSO ◽  
PAUL E. HYMAN ◽  
RONALD S. OSEAS
Keyword(s):  
Case Report ◽  
Family History ◽  
Vitamin B12 ◽  
Autosomal Recessive ◽  
Chronic Diarrhea ◽  
Megaloblastic Anemia ◽  
Microcytic Anemia ◽  
History Of ◽  
Autosomal Recessive Condition ◽  
Vitamin B12 Malabsorption

Imerslund-Grasbeck syndrome is a hereditary autosomal recessive condition of selective vitamin B12 malabsorption in the terminal ileum, resulting in chronic megaloblastic anemia.1,2 The purpose of this report is to describe a child with coincident Imerslund-Grasbeck syndrome and α-thalassemia, who also had a vitamin B12-sensitive microcytic anemia. CASE REPORT When R.S. was 15 months of age his mother reported that progressive anorexia and lethargy had developed. There was no history of chronic diarrhea, vomiting, frequent infections, or pica; there was no family history for blood dyscrasias. R.S. was a black boy who weighed 8.3 kg (less than the fifth percentile); his length was 74 cm (less than the fifth percentile), and his head circumference was 45 cm (second percentile).

scholarly journals Laurence-Moon-Bardet-Biedl Syndrome: A case report

2019 ◽  
Vol 59 (6) ◽  
pp. 349-52
Author(s):  
Md. Mozammel Haque ◽  
Kamrunnaher Shultana ◽  
Tahmina Binte Matin ◽  
Md. Shohidul Islam Khan ◽  
Abdullah Al Baki
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Retinal Pigment ◽  
Clinical Signs ◽  
Mental Deficiency ◽  
Cone Dystrophy ◽  
Anal Atresia ◽  
Bardet Biedl Syndrome

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

scholarly journals Clinical Approach to a child with Poikiloderma: A case report

2021 ◽  
Author(s):  
Samir Shrestha ◽  
Sudha Agrawal
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Clinical Approach ◽  
Recessive Condition ◽  
Autosomal Recessive Condition ◽  
Rothmund Thomson Syndrome

Rothmund-Thomson Syndrome is a rare autosomal recessive condition presenting usually in infancy that can be diagnosed based on time of onset, spreading and appearance of the poikiloderma.The purpose of reporting this case is to highlight the clinical approach to a child who presents with the features of poikiloderma.

scholarly journals Alkaptonuria and Ochronosis – Experience From Slovakia

2014 ◽  
Vol 61 (1) ◽  
Author(s):  
J. Rovenský ◽  
T. Urbánek ◽  
R. Imrich
Keyword(s):  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Homogentisic Acid ◽  
Recessive Condition ◽  
Tyrosine Metabolism ◽  
Autosomal Recessive Condition

AbstractAlkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide accumulate in the blood and are excreted in urine in large amounts. The polymer of homogentisic acid called alkapton impregnates bradotrophic tissues.

scholarly journals A Case Report: Papillon Lefevre Syndrome

2019 ◽  
Vol 3 (2) ◽  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Genetic Disorder ◽  
Autosomal Recessive Disorder ◽  
Antimicrobial Treatment ◽  
Periodontal Treatment ◽  
Permanent Teeth ◽  
Gingival Inflammation ◽  
Palmoplantar Hyperkeratosis

Study Background: Papillon Lefevre Syndrome (PLS) is an autosomal recessive inherited genetic disorder characterized by palmoplantar hyperkeratosis and premature loss of deciduous and permanent teeth. Mutation of cathepsin C gene has been detected in the patient with PLS. In this case report, oral and radioghaphic findings of one PLS patient were discussed. 14 year old male patient diagnosed with PLS after radiographic, dermatologic and dental examination was referred to our clinic due to severe gingival inflamation and mobility. Severe gingival inflamation, alveolar bone resorption and multiple teeth loss due to periodontal reasons were observed. Mild palmar and moderate plantar hyperkeratosis were observed but no other systemic problems were detected. Methods: Non-surgical periodontal treatment was perfomed among multiple sessions and in each session subgingival tissues had been irrigated with %2 chlorhexidine irrigation solution. To reduce severe gingival inflammation antibiotherary has been prescribed. Hopeless teeth were extracted. Results: After non-surgical periodontal treatment and antibiotherary severe gingival inflammation was reduced but not eliminated completely, mobility score of some teeth reached to zero score, patient was motivated about oral hygiene and was taken into maintanence phases. After having extracted hopeless teeth patient was directed for prosthodontic rehabilitation. Conclusion: PLS is a rare autosomal recessive disorder. With PLS-specific dermatologic findings and characteristic periodontal view, it is possible to be able to identify the disease in its very early stages. Early diagnosis of the disease and institution of an appropriate periodontal and antimicrobial treatment might improve the prognosis.

scholarly journals Cockayne Syndrome with ERCC8 Gene Mutation: A Case Report

2021 ◽  
Vol 44 (3) ◽  
pp. 181-183
Author(s):  
Kanij Fatema ◽  
Md Mizanur Rahman ◽  
Shaheen Akhter
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Growth Failure ◽  
Autosomal Recessive Disorder ◽  
Cockayne Syndrome ◽  
Global Developmental Delay ◽  
Hearing Disorders ◽  
Cognitive Delay ◽  
Intracerebral Calcification

Cockayne syndrome (CS) is a genetic disorder characterized by growth failure, microcephaly, cognitive delay, visual and hearing disorders. Patients usually present with dysmorphism and global delay. It is an autosomal recessive disorder, mutation of two genes ERCC8 and ERCC6 were observed. We report a 4 year old child who was diagnosed as a case of Cockayne syndrome, based on clinical, neuroimaging and genetic study findings. This case had growth failure, dysmorphism, optic atrophy, global developmental delay, intracerebral calcification and mutation of ERCC8 gene. Bangladesh J Child Health 2020; VOL 44 (3) :181-183

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