scholarly journals Thrombocytopenia with absent radii (TAR) Syndrome in a male child: report of a rare case

2018 ◽  
Vol 2 (2) ◽  
pp. 91
Author(s):  
Kabyashree Jana ◽  
Tirthankar Chakraborty ◽  
Tapan Kumar Ghosh ◽  
Sulekha Ghosh ◽  
Swapan Pathak
Keyword(s):  
Rare Case ◽  
Health Sciences ◽  
Consanguineous Marriage ◽  
Age Group ◽  
Skeletal Deformity ◽  
Child Report ◽  
Male Baby ◽  
Tar Syndrome ◽  
Bilateral Absence ◽  
Radial Aplasia

Introduction: Thrombocytopenia with absent radii (TAR) Syndrome is a rare congenital defect presents with hypomegakaryocytic thrombocytopenia and bilateral radial aplasia and preserved thumb.Case presentation: A three and half year’s old male baby born out of non-consanguineous marriage with thrombocytopenia and bilateral absence of radius. Such type of anomaly has been previously reported in the children of a non- consanguineous marriage was few.Conclusions: Though rare incidence, all thrombocytopenia with any skeletal deformity cases in newborn or infancy to toddler age group must be thoroughly investigated to exclude TAR syndrome. Case is presenting here because of rarity.International Journal of Human and Health Sciences Vol. 02 No. 02 April’18. Page : 91-93

scholarly journals Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Dhaka, Bangladesh

2021 ◽  
Vol 3 (1) ◽  
pp. 11-14
Author(s):  
Sadia Saber ◽  
Mohammad Dabir Hossain ◽  
Mohammed Tarek Alam ◽  
Mohammad Monower Hossain ◽  
Suhail Gulzar
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Tertiary Care ◽  
Consanguineous Marriage ◽  
Bardet Biedl Syndrome ◽  
Excessive Weight ◽  
Rare Case Report ◽  
Males And Females ◽  
Renal Abnormalities

Bardet Biedl Syndrome (BBS) is an infrequent ciliopathic autosomal recessive genetic disorder that produces many effects and affects various body systems. Consanguineous marriage is conventionally considered as the most frequent etiology. The primary characteristics of the disorder are gradual visual impairment caused by retinal abnormalities, excessive weight gain, learning disabilities, Postaxial Polydactyly, Hypogonadism in males, renal abnormalities (kidney malformations and/or malfunctions). It affects both males and females. There is currently no specific cure for BBS but children with BBS benefit greatly from therapies like physical, occupational, speech and vision services. We, here, have presented a young boy of 15 years with the features of Bardet Biedl Syndrome.

An Ulcerated Gingival Mass in an 8-Year-Old Child: Report of a Rare Case

2015 ◽  
Vol 119 (3) ◽  
pp. e147
Author(s):  
Saede Atarbashi Moghadam ◽  
Saeedeh Mokhtari ◽  
Sepideh Mokhtari
Keyword(s):  
Rare Case ◽  
Child Report

scholarly journals Ectopic Solitary Cortical Anaplastic Ependymoma in a Child: A Rare Entity with Short Illustrative Review

2017 ◽  
Vol 07 (03) ◽  
pp. 249-252
Author(s):  
Sachin Guthe ◽  
Pravin Survashe ◽  
Vernon Velho ◽  
Laxmikant Bhopale ◽  
Poonam Darade
Keyword(s):  
Rare Case ◽  
Ependymal Cell ◽  
Age Group ◽  
Pediatric Age ◽  
Rare Entity ◽  
Total Excision ◽  
Anaplastic Ependymoma ◽  
Pediatric Age Group ◽  
Cell Lining

AbstractEpendymomas are usually infratentorial and intraventricular. They originate from the ependymal cell lining of the ventricles. Cortical extraventricular supratentorial ependymomas are rare and fewer than 15 cases are reported worldwide. In pediatric age group, seven cases are reported. We report a rare case of 4-year-old boy with right frontoparietal anaplastic ependymoma who underwent gross total excision of lesion.

scholarly journals A rare case of osteomyelitis of the clavicle in a child due to Group A streptococcal infection

2019 ◽  
Vol 12 (4) ◽  
pp. e227090
Author(s):  
Molla Imaduddin Ahmed ◽  
Muhammad Nadeem ◽  
Srini Bandi
Keyword(s):  
Rare Case ◽  
Streptococcal Infection ◽  
Case Reports ◽  
Left Shoulder ◽  
Age Group ◽  
Incision And Drainage ◽  
Left Clavicle ◽  
Paediatric Age ◽  
Group A ◽  
Medial Clavicle

Acute osteomyelitis of the clavicle is rare in the paediatric age group. We treated a 5-year-old boy who presented initially with fever and left shoulder pain, and subsequently developed swelling in the region of the left clavicle. Group AStreptococcus(GAS) was isolated in blood culture. MRI of the clavicle showed osteomyelitis of the medial clavicle. The child had incision and drainage of his clavicular collection. The child received intravenous benzylpenicillin and oral cephalexin in the initial presentation; he was treated with 2 weeks of intravenous ceftriaxone and 4 weeks of oral penicillin thereafter with the resolution of his symptoms. There are no previous case reports of osteomyelitis of the clavicle in children caused by GAS. This case highlights the importance of identifying the microbial aetiology in these children to ensure early initiation of treatment with appropriate antibiotics.

scholarly journals Rare case of solitary plasmacytoma of the skull in a young male patient

2017 ◽  
Vol 21 (1) ◽  
Author(s):  
Swati Singh ◽  
Vaishali Upadhyaya ◽  
Rajat Agarwal ◽  
Ratni B. Gujral
Keyword(s):  
Elderly Patient ◽  
Multiple Myeloma ◽  
Male Patient ◽  
Rare Case ◽  
Osteolytic Lesion ◽  
Young Male ◽  
Axial Skeleton ◽  
Solitary Plasmacytoma ◽  
Age Group ◽  
Rare Entity

Solitary plasmacytoma of bone without signs of multiple myeloma is a rare entity. It usually presents as an osteolytic lesion in the axial skeleton of an elderly patient. Here, we report a case of solitary plasmacytoma in the skull of a young male patient which emphasises the need to consider it in the differential diagnosis of a destructive calvarial mass lesion even in this age group.

scholarly journals A Rare Case of Extraskeletal Primary Osteosarcoma of Breast: How We Managed

2018 ◽  
Vol 04 (02) ◽  
pp. 077-078
Author(s):  
Kailash Sharma ◽  
Yogendra Singh ◽  
Rajiv Kumar ◽  
Udip Maheshwari ◽  
Sunil Pasricha ◽  
...  
Keyword(s):  
Young People ◽  
Rare Case ◽  
Medical Literature ◽  
Histopathological Examination ◽  
Age Group ◽  
Breast Cancers ◽  
Elderly Age ◽  
Rare Form ◽  
Skeletal Involvement ◽  
Primary Osteosarcoma

AbstractPrimary osteosarcoma arising in breast is a rare form of extra skeletal osteosarcoma, accounting for less than 1% of all breast cancers and 12.5% of sarcomas arising in breast. Fewer than 150 cases of primary osteosarcoma of breast have been reported in the medical literature in the last 50 years. It was reported to have worse outcome compared to typical skeletal osteosarcoma. Osteosarcoma of breast presents in elderly age group unlike skeletal osteosarcoma, which occurs in young people. Diagnosis is by histopathological examination of malignant osteoid and ruling out underlying skeletal involvement.

scholarly journals A 16-year-old Girl with Morquio Syndrome: A Case Report

2018 ◽  
Vol 8 (3) ◽  
pp. 266-269
Author(s):  
AKM Motiur Rahman Bhuiyan ◽  
Maftahul Jannat ◽  
Md Zilan Miah Sarker ◽  
Mohammad Tanvir Islam ◽  
Amit Roy Chowdhury
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Consanguineous Marriage ◽  
Mucopolysaccharidosis Type ◽  
Skeletal Deformity ◽  
Type Iv ◽  
Morquio Syndrome ◽  
Radiological Changes ◽  
Morquio Syndrome A ◽  
Medical University

Morquio syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism, also called mucopolysaccharidosis type IV. We report a case of Morquio syndrome in a16-year- old girl of normal intelligence, who got herself admitted in Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh. The patient had short stature and skeletal deformity and she belonged to a non-consanguineous marriage of her parents. She was diagnosed on the basis of clinical features, typical radiological changes and positive urinary mucopolysaccharide screening test.Birdem Med J 2018; 8(3): 266-269

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