Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation

AbstractVan Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.

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Severe Antithrombin III Deficiency in an Infant Associated with Multiple Arterial and Venous Thromboses

Thrombosis and Haemostasis ◽

10.1055/s-0038-1648068 ◽

1976 ◽

Vol 36 (03) ◽

pp. 495-502 ◽

Cited By ~ 14

Author(s):

Geoffrey Mendelsohn ◽

Edward D. Gomperts ◽

Dennis Gurwitz

Keyword(s):

Antithrombin Iii ◽

Adult Life ◽

Rare Condition ◽

Male Infant ◽

Liver Cells ◽

Liver Pathology ◽

Fixed Tissue ◽

Formalin Fixed Tissue ◽

First Case ◽

At Iii

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.

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Anesthesia in Carvajal syndrome; the first case report

Anaesthesia, Pain & Intensive Care ◽

10.35975/apic.v24i1.1233 ◽

2020 ◽

Vol 24 (1) ◽

pp. 105-107

Author(s):

Sedighe Shahhosseini ◽

Reza Aminnejad ◽

Amir Shafa ◽

Mehrdad Memarzade

Keyword(s):

Intensive Care ◽

Case Report ◽

Surgical Resection ◽

Genetic Disorder ◽

Anesthetic Technique ◽

Close Monitoring ◽

Anesthesia Management ◽

Rare Genetic Disorder ◽

First Case ◽

Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

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Fetus in fetu: two case reports from North African country

Egyptian Pediatric Association Gazette ◽

10.1186/s43054-020-00049-5 ◽

2021 ◽

Vol 69 (1) ◽

Author(s):

Moutaz Ragab ◽

Omar Nagy Abdelhakeem ◽

Omar Mansour ◽

Mai Gad ◽

Hesham Anwar Hussein

Keyword(s):

Histopathological Examination ◽

Case Reports ◽

Abdominal Mass ◽

Mature Teratoma ◽

Surgical Techniques ◽

Rare Condition ◽

Mass Effect ◽

Fetus In Fetu ◽

Vascular Connection ◽

First Case

Abstract Background Fetus in fetu is a rare congenital anomaly. The exact etiology is unclear; one of the mostly accepted theories is the occurrence of an embryological insult occurring in a diamniotic monochorionic twin leading to asymmetrical division of the blastocyst mass. Commonly, they present in the infancy with clinical picture related to their mass effect. About 80% of cases are in the abdomen retroperitoneally. Case presentation We present two cases of this rare condition. The first case was for a 10-year-old girl that presented with anemia and abdominal mass, while the second case was for a 4-month-old boy that was diagnosed antenatally by ultrasound. Both cases had vertebrae, recognizable fetal organs, and skin coverage. Both had a distinct sac. The second case had a vascular connection with the host arising from the superior mesenteric artery. Both cases were intra-abdominal and showed normal levels of alpha-fetoprotein. Histopathological examination revealed elements from the three germ layers without any evidence of immature cells ruling out teratoma as a differential diagnosis. Conclusions Owing to its rarity, fetus in fetu requires a high degree of suspicion and meticulous surgical techniques to avoid either injury of the adjacent vital structures or bleeding from the main blood supply connection to the host. It should be differentiated from mature teratoma.

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Lactotransferrin-Related Breast Amyloidosis: Report of a First Case

International Journal of Surgical Pathology ◽

10.1177/10668969211016053 ◽

2021 ◽

pp. 106689692110160

Author(s):

Mingfei Yan ◽

Mark Rodgers ◽

Aparna Harbhajanka ◽

Hannah Gilmore

Keyword(s):

Breast Lesion ◽

Hematologic Malignancy ◽

Genetic Disorders ◽

Rare Condition ◽

Myoepithelial Cells ◽

Hematological Disorders ◽

First Case ◽

Benign Nature ◽

Extensive Involvement

Breast amyloidosis is a rare condition which is mostly associated with hematological disorders or hereditary genetic disorders. Imaging findings of breast amyloidosis can mimic malignancy, which often leads to biopsy or excision of the lesion. Here, we presented a case of localized lactotransferrin-related breast amyloidosis in an elderly female patient. Histologic examination revealed extensive involvement of breast lobules by amorphous amyloid materials, with attenuation of lobular structures and prominent calcifications. Positive immunostains for myoepithelial cells helped to exclude the possibility of invasive carcinoma. The patient had no hematologic malignancy besides immunoglobulin G lambda monoclonal gammopathy of undetermined significance. Mass spectrometry of the breast amyloid identified lactotransferrin and no immunoglobulin or its light chain. On follow-up, the patient showed no recurrence of the breast lesion after local excision nor showed other systematic comorbidities, indicating the benign nature of the lesion. This first report of lactotransferrin-related amyloidosis may represent a special type of localized breast amyloidosis that has no correlation with systematic disorders.

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Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent

Oral Surgery Oral Medicine Oral Pathology and Oral Radiology ◽

10.1016/j.oooo.2015.04.002 ◽

2015 ◽

Vol 120 (5) ◽

pp. e210-e218 ◽

Cited By ~ 5

Author(s):

Parth Purwar ◽

Sagar Sareen ◽

Kishlay Bhartiya ◽

Sayyed Rayyan Sayed Inayatullah ◽

Mayank Bansal ◽

...

Keyword(s):

Situs Inversus ◽

Indian Subcontinent ◽

Situs Inversus Totalis ◽

First Case

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Aspergillus pachymeningitis mimicking nasopharyngeal carcinoma

The Journal of Laryngology & Otology ◽

10.1017/s0022215110001623 ◽

2010 ◽

Vol 125 (1) ◽

pp. 103-107 ◽

Cited By ~ 6

Author(s):

H S Chan ◽

H Y Yuen ◽

W K Ng ◽

A C Vlantis ◽

A T Ahuja ◽

...

Keyword(s):

Nasopharyngeal Carcinoma ◽

World Literature ◽

Clinical Course ◽

Rare Condition ◽

Imaging Features ◽

Resonance Imaging ◽

Radiological Findings ◽

Cranial Nerve Palsies ◽

The World ◽

Multiple Cranial Nerve

AbstractObjectives:We report a case of otogenic fungal pachymeningitis in a diabetic patient who presented with multiple cranial nerve palsies and nasopharyngeal swelling.Methods:We present a case report, we describe the investigations, management and clinical course of fungal pachymeningitis, and we present a review of the world literature on fungal and non-fungal pachymeningitis.Results:To our knowledge, this is the first report of fungal pachymeningitis with magnetic resonance imaging features suggestive of nasopharyngeal carcinoma. It is also the first reported case with aspergillus cultured from both a dural biopsy and the ear canal.Conclusion:Fungal pachymeningitis is a rare condition which may present to otorhinolaryngologists. Its clinical and radiological findings can be confused with those of nasopharyngeal carcinoma; fungal pachymeningitis should thus be included in the differential diagnosis of nasopharyngeal carcinoma.

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Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression

Pediatric Neurosurgery ◽

10.1159/000517652 ◽

2021 ◽

pp. 1-6

Author(s):

Flavio Giordano ◽

Matteo Lenge ◽

Pierarturo Donati ◽

Lorenzo Mongardi ◽

Gianpiero Di Giacomo ◽

...

Keyword(s):

Fecal Incontinence ◽

Neurogenic Bladder ◽

Genetic Disorder ◽

Motor Impairment ◽

Foramen Magnum ◽

Clinical Findings ◽

Lumbar Stenosis ◽

Endochondral Bone ◽

Case Presentation ◽

First Case

Introduction: Achondroplasia is a genetic disorder characterized by defects in the development of endochondral bone resulting in skeletal abnormalities like stenosis of the foramen magnum and of the spine, shortened limb bones, and macrocephaly. Congenital spinal stenosis is frequent and due to premature fusion of the pedicles to the laminae. Case Presentation: We report a case of neurogenic bladder and fecal incontinence due to lumbar stenosis successfully treated with L1–L5 partial laminectomy and foraminotomy in a 7-year-old achondroplasic child. Discussion/Conclusion: To our knowledge, this is the first case report of exclusive neurogenic bladder and fecal incontinence in an achondroplasic child. Neurogenic bladder and fecal incontinence without motor impairment may be early and exclusive clinical findings of lumbar stenosis in children with achondroplasia.

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Medical management of coral reef aorta through optimised diuretic use and angiotensin receptor blockade

BMJ Case Reports ◽

10.1136/bcr-2021-242724 ◽

2021 ◽

Vol 14 (6) ◽

pp. e242724

Author(s):

Nicodemus Edrick Oey ◽

Haresh Tulsidas ◽

Krithikaa Nadarajan

Keyword(s):

Coral Reef ◽

Medical Management ◽

Rare Condition ◽

Definitive Treatment ◽

Receptor Blockade ◽

Angiotensin Receptor ◽

Endovascular Stenting ◽

Refractory Hypertension ◽

First Case ◽

Angiotensin Receptor Blockade

Coral reef aorta (CRA) is a rare condition with potentially devastating complications. It is characterised by atherosclerotic calcification and stenosis of the visceral part of the aorta, usually occurring at the juxtarenal or suprarenal locations, and causing refractory hypertension and renal dysfunction. Surgical intervention, which is the recommended definitive treatment, is associated with significant morbidity and mortality. Endovascular stenting has been reported to be an alternative management option. To the best of our knowledge, this is the first case report to describe medical management of a patient with CRA with diuretics and angiotensin receptor blockade without surgical treatment.

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Laparoscopic treatment of congenital choledochal cyst and hepaticojejunostomy with extracorporeal Roux-en-Y anastomosis: technical aspects and early experience with three cases

La Pediatria Medica e Chirurgica ◽

10.4081/pmc.2016.125 ◽

2016 ◽

Vol 38 (2) ◽

Cited By ~ 2

Author(s):

Mario Lima ◽

Tommaso Gargano ◽

Giovanni Ruggeri ◽

Francesca Destro ◽

Michela Maffi

Keyword(s):

Choledochal Cyst ◽

Laparoscopic Approach ◽

Rare Condition ◽

Early Experience ◽

Cyst Excision ◽

Intrahepatic Bile Ducts ◽

First Case ◽

Laparoscopic Excision ◽

Extracorporeal Anastomosis ◽

Laparoscopic Removal

Choledochal cyst (CDC) is a congenital dilatation of the extra and/or intrahepatic bile ducts and it is a rare condition in western countries. Classical treatment consists of cyst excision and hepaticojejunostomy. The first case of a laparoscopic CDC excision was described in 1995 and since that time an increasing number of institutions have adopted this technique, with good success. We describe our early experience of 3 cases of CDC treated with laparoscopic approach. We used a 10 mm umbilical port for the camera, and four 3-5 mm operative ports. We performed the laparoscopic removal of the cyst and gallbladder, videoassisted preparation of the Roux-en-Y loop and laparoscopic hepaticjejunostomy. No post-operative complications occurred. Laparoscopic excision of CDCs has been supposed to give better observation, a better cosmetic result, potentially less postoperative pain, and a shorter recovery. The main argument for performing an extracorporeal anastomosis is that it decreases the operative time. We recommend caution to prevent injury to the pancreatic duct and biliary structures during dissection and anastomosis. Lifelong surveillance is mandatory, even after resection of the choledochal cyst.

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Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases

Frontiers in Genetics ◽

10.3389/fgene.2021.724824 ◽

2021 ◽

Vol 12 ◽

Author(s):

Harsh Sheth ◽

Jhanvi Shah ◽

Aadhira Nair ◽

Premal Naik ◽

Jayesh Sheth

Keyword(s):

Genetic Disorder ◽

Case Series ◽

Missense Variant ◽

Community Analysis ◽

Gait Disturbance ◽

Mutant Genotype ◽

Progressive Pseudorheumatoid Dysplasia ◽

First Case ◽

Abnormal Posture ◽

Biallelic Mutations

Biallelic mutations in the CCN6 gene are known to cause a rare genetic disorder—progressive pseudorheumatoid dysplasia (PPD). PPD is characterized by distinct joint deformities of interphalangeal joints, stiffness, gait disturbance, abnormal posture, and absence of inflammation, resulting in significant morbidity. The largest case series of PPD from India suggests c.233G>A and c.1010G>A to be the most common mutations in the CCN6 gene, although the distribution of these variants among endogamous communities in India has not been carried out. We here report three cases of PPD from three independent families belonging to the Patni community of Gujarat, a community known to practice endogamy. All three cases had short stature, gait disturbance, scoliosis, and interphalangeal joint deformities. Analysis by whole-exome sequencing in the first case showed the presence of a previously known, homozygous, missense variant c.298T>A (p.Cys100Ser) in exon 3 of the CCN6 gene in all cases. Due to all three families belonging to the same community, analysis by Sanger sequencing in the remaining two cases for the variant mentioned earlier showed both cases to be of homozygous mutant genotype. Unaffected family members, i.e., parents and siblings, were either heterozygous carriers or wildtype for the said variant. The present case series is the first report of a recurrent variant occurring across multiple PPD-affected individuals from unrelated families belonging to the same community from India.

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