scholarly journals A Very Rare Case of Megalencephalic Leukoencepalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community

Cureus ◽  
2021 ◽  
Author(s):  
Harneet S Randhawa ◽  
Jasneet Randhawa ◽  
Anagha Kulkarni ◽  
Akshay More ◽  
Akshay Jain
Keyword(s):  
Rare Case ◽  
Consanguineous Marriage ◽  
Subcortical Cysts

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.

scholarly journals Thanatophoric dysplasia: a case report

2019 ◽  
Vol 8 (2) ◽  
pp. 758
Author(s):  
Uruj Jahan ◽  
Astha Sharma ◽  
Neena Gupta ◽  
Shruti Gupta ◽  
Fatima Usmani ◽  
...  
Keyword(s):  
Rare Case ◽  
Consanguineous Marriage ◽  
Thanatophoric Dysplasia ◽  
New Mutation ◽  
High Importance ◽  
Dysmorphic Features ◽  
Fgfr3 Gene ◽  
Pain Abdomen ◽  
Female Baby ◽  
Lethal Skeletal Dysplasia

Thanatophoric Dysplasia (TD) is a congenital, sporadic and most lethal skeletal dysplasia caused by new mutation in FGFR3 gene. Authors report such a rare case of a term alive baby with dysmorphic features, born to an unbooked, 40 years old G4P3+0 with non-consanguineous marriage; admitted at 9 months of gestation to present hospital with complain of pain abdomen for 2 days. Patient delivered a term female baby of vaginally which had delayed cry after birth, Admitted in NICU immediately with respiratory distress. The baby looked dysmorphic and suggested TD as most likely diagnosis. The case is being reported for its rarity and for high importance of early booking and anomaly scan. Early diagnosis is important since it provides alternative options of termination of pregnancy when an affected foetus is detected.

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

Identification of Pulmonary Deposits from a Sandpaper Worker: A Study by Electron Microscopy and X-Ray Microanalysis

1982 ◽  
Vol 40 ◽  
pp. 52-53
Author(s):  
S. K. Peng ◽  
M.A. Egy ◽  
J. K. Singh ◽  
M.B. Bishop
Keyword(s):  
Electron Microscopy ◽  
Environmental Pollution ◽  
Rare Case ◽  
Interstitial Fibrosis ◽  
X Ray ◽  
Documented Case ◽  
Etiologic Agents ◽  
Pulmonary Interstitial Fibrosis ◽  
Gold Miners ◽  
Pulmonary Changes

Electron microscopy and energy dispersive x-ray microanalysis (EDXA) are found to be very useful tools for identification of etiologic agents in pneumoconiosis or interstitial pulmonary disorders. Pulmonary interstitial fibrosis and granulomatosis are frequently associated with occupational and environmental pollution. Numerous reports of pneumoconiosis in various occupations such as coal and gold miners are presented in the literature. However, there is no known documented case of pulmonary changes in workers in the sandpaper industry. This study reports a rare case of pulmonary granulomatosis containing deposits from abrasives of sandpaper diagnosed by using EDXA.

Abstract #736: A Rare Case of an Ectopic Parathyroid Adenoma Mimicking a Parathyroid Carcinoma

2015 ◽  
Vol 21 ◽  
pp. 143
Author(s):  
Elizabeth Sanchez Rangel ◽  
Maria Moscoso Cordero ◽  
Vinuta Mohan ◽  
Tasneem Zahra
Keyword(s):  
Parathyroid Adenoma ◽  
Parathyroid Carcinoma ◽  
Rare Case ◽  
Ectopic Parathyroid Adenoma ◽  
Ectopic Parathyroid

Abstract #110: Hemorrhagic Subdiaphragmatic Bronchogenic Cyst Mimicking an Adrenal Tumor: a Rare Case

2015 ◽  
Vol 21 ◽  
pp. 6
Author(s):  
Roy Guinto ◽  
Michele Ledoux ◽  
Alicia Williams ◽  
Anthony Mark
Keyword(s):  
Rare Case ◽  
Adrenal Tumor ◽  
Bronchogenic Cyst

Abstract #830: Rare Case of Severe Hypercalcemia: Gauchers Disease

2016 ◽  
Vol 22 ◽  
pp. 176-177
Author(s):  
Sudhamshi Toom ◽  
Elizabeth Sedlis Singer
Keyword(s):  
Rare Case ◽  
Severe Hypercalcemia

Abstract #1155: Acute Neck Swelling: A Rare Case of Spontaneous Hemorrhage in Thyroid Nodule

2016 ◽  
Vol 22 ◽  
pp. 278
Author(s):  
Anne Bacal ◽  
Nour Batarseh ◽  
Erin Drever ◽  
Tahira Yasmeen
Keyword(s):  
Thyroid Nodule ◽  
Rare Case ◽  
Neck Swelling ◽  
Spontaneous Hemorrhage
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