scholarly journals Virchow Seckel Syndrome: The First Case in Iraq and the Early Documentation of the Syndrome in the Literature.

2020 ◽  
pp. 1-4 ◽  
Keyword(s):  
Medical Literature ◽  
Rare Condition ◽  
Autosomal Recessive Inheritance ◽  
Bone Age ◽  
Postnatal Growth ◽  
The Body ◽  
Poor Growth ◽  
Genetic Syndrome ◽  
Seckel Syndrome ◽  
First Case

Abstract Background: Virchow Seckel syndrome or bird-headed dwarfism syndrome is a very rare genetic syndrome characterized by intrauterine and postnatal growth retardation with very poor growth of the body and head, narrow bird-like face with a peculiar nose, mental retardation and other congenital abnormalities. An autosomal recessive inheritance and a heterogeneous nature of the condition have been expected. This Virchow Seckel syndrome has not been reported in Iraq. Patients and methods: Four years and four months old girl was referred to the pediatric neuropsychiatry clinic of the Children Teaching Hospital of Baghdad Medical City because of significant growth and developmental retardation. The child was studied and the relevant medical literature was reviewed with aim of describing the early documentation of her rare condition in the medical literature. Results: The girl weight at birth was about 1.5 kilograms. She was experiencing very poor growth and her height was 72 cm and her weight 6 kilograms. She had low set ears, small head with narrow face, downward slanting eyebrows and a peculiar nose. She was also mentally retarded with poor language development. Family history was negative for similar cases. Bone age assessment was performed using radiographs of the left and wrist, left elbow, hips and knee and showed delayed bone age of about one year. Conclusion: During the first century of documentation of this syndrome (1882-1981, about 35 were reported in the literature and in this paper, the first case of this syndrome in Iraq is described.

scholarly journals Torticollis as the Main Presentation in a Child with Russell-Silver Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Mohsen Javadzadeh ◽  
Hedieh Saneifard ◽  
Amir Hossein Hosseini
Keyword(s):  
Genetic Disorder ◽  
Postnatal Growth ◽  
The Body ◽  
Poor Growth ◽  
Triangular Face ◽  
Postnatal Growth Retardation ◽  
Significant Difference ◽  
Males And Females ◽  
Silver Syndrome ◽  
Two Sides

Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The main clinical features include low birth weight, poor growth postnatally, short height, and discrepancies in size between the two sides of the body Abu-Amera et al. (2008), Binder et al. (2011). There is no statistical significant difference in prevalence between males and females. We report a case of Russell-Silver syndrome with intrauterine and postnatal growth retardation, triangular face, and body asymmetry, in addition to torticollis as a novel manifestation. In neck sonography, we found asymmetry of sternocleidomastoid muscles. In conclusion, we describe torticollis as a presentation of Russell-Silver syndrome.

scholarly journals Case Report and Literature Review: COVID-19 and status epilepticus in Dyke-Davidoff-Masson syndrome

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 9
Author(s):  
Lourdes de Fátima Ibañez Valdés ◽  
Jerry Geroge ◽  
Sibi Joseph ◽  
Mohamed Alshmandi ◽  
Wendy Makaleni ◽  
...  
Keyword(s):  
Case Report ◽  
Status Epilepticus ◽  
Medical Literature ◽  
Academic Career ◽  
Cerebral Atrophy ◽  
Facial Asymmetry ◽  
Rare Condition ◽  
High Functioning ◽  
Radiological Features ◽  
First Case

Dyke-Davidoff-Masson syndrome (DMMS) is a non-inherited rare condition with a clinical constellation of hemiparesis/hemiplegia, facial asymmetry, intellectual disability, and epilepsy. The radiological features can be including unilateral cerebral atrophy, calvarial thickening, and hyper pneumatization of the paranasal sinuses. The condition can either be congenital or acquired. The presentation usually occurs during childhood or early adolescents, but there have been adult cases reported. Here we report a 48-year-old male who was a known poorly controlled epileptic that contracted SARS-CoV-2 with subsequently developed status epilepticus and, when worked up, was shown to have features of DDMS. This case is unique as the patient had hemiatrophy and epilepsy but managed to lead a normal, physically demanding, and high functioning academic career and presented late in life. Perhaps only due to coronavirus disease 2019 (COVID-19) was this diagnosis picked up. This report contains a case presenting atypical DDMS in status epilepticus and COVID -19 plus other complications. From our knowledge, this is the first case presenting these comorbidities reported to the medical literature.

Seckel syndrome and moyamoya

2009 ◽  
Vol 3 (4) ◽  
pp. 320-324 ◽  
Author(s):  
Patrick J. Codd ◽  
R. Michael Scott ◽  
Edward R. Smith
Keyword(s):  
Intracranial Aneurysm ◽  
Rapid Development ◽  
Vascular Anatomy ◽  
Autosomal Recessive Disorder ◽  
Postnatal Growth ◽  
Growth Delay ◽  
Moyamoya Syndrome ◽  
Surgical Revascularization ◽  
Seckel Syndrome ◽  
First Case

Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose. Occurring in 1 in 10,000 children without sex preference, it is the most common primordial microcephalic osteodysplastic dwarfism and has been associated with a variety of congenital brain malformations and intracranial aneurysms. Moyamoya syndrome is an idiopathic, chronic, progressive cerebrovascular disorder marked by stenosis of the intracranial internal carotid arteries and concurrent development of hypertrophied collateral vessels. These tortuous arterial collaterals appear radiographically as “puffs of smoke,” giving the syndrome its name. In this report, the authors describe the case of a 16-year-old girl with coincident Seckel and moyamoya syndromes. To their knowledge, this is the first reported case of such an association being treated with surgical revascularization. The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. Imaging studies revealed multiple completed cerebral infarcts, global ischemic changes, and vascular anatomy consistent with moyamoya syndrome. Bilateral pial synangioses successfully revascularized each hemisphere with resolution of the patient's symptoms. The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. In addition, the report reveals the rapid development of an intracranial aneurysm in a patient with this syndrome. When coupled with previous reports of other types of cerebrovascular disease in patients with Seckel syndrome or other primordial dwarfisms, the authors' findings are important because they suggest that physicians treating patients with dwarfism should consider the diagnosis of moyamoya syndrome when symptoms suggestive of cerebral ischemia are present. Prompt diagnosis and treatment of moyamoya syndrome, including the use of proven surgical revascularization procedures such as pial synangiosis, may significantly improve the long-term outcomes of these patients.

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

1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
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.

scholarly journals Fetus in fetu: two case reports from North African country

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.

scholarly journals Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
V. Thadchanamoorthy ◽  
Kavinda Dayasiri ◽  
M. Thirukumar ◽  
N. Thamilvannan ◽  
S. H. Chandraratne
Keyword(s):  
Rare Condition ◽  
The Body ◽  
Sri Lankan ◽  
Aplasia Cutis Congenita ◽  
Skin Defects ◽  
Underlying Causes ◽  
Cutis Aplasia ◽  
Contracture Formation ◽  
Type V ◽  
Aplasia Cutis

Abstract Background Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown. Case presentation A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team. Conclusions Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.

Lactotransferrin-Related Breast Amyloidosis: Report of a First Case

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.

Proteus syndrome in pregnancy: A case report

2020 ◽  
pp. 1753495X2097079
Author(s):  
Niccole Ranaei-Zamani ◽  
Mandeep K Kaler ◽  
Rehan Khan
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Proteus Syndrome ◽  
Cutaneous Lesions ◽  
Genetic Syndrome ◽  
Skeletal Tissue ◽  
First Case ◽  
Large Teaching Hospital ◽  
Clinical Presentations ◽  
In Pregnancy

Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal musculoskeletal growth and cutaneous lesions. Due to its rarity, there have been a limited number of published case reports of Proteus syndrome. This is the first case report on the management of Proteus syndrome in pregnancy. We present the case of a pregnant woman with Proteus syndrome in her first pregnancy in a large teaching hospital and discuss the considerations and challenges faced in her antenatal, intrapartum and postnatal care.

scholarly journals Acute Cholecystitis Caused by Ceftriaxone Stones in an Adult

2009 ◽  
Vol 2009 ◽  
pp. 1-2 ◽  
Author(s):  
Christian D. Becker ◽  
Robert A. Fischer
Keyword(s):  
Adult Patient ◽  
Acute Cholecystitis ◽  
Health Problem ◽  
Medical Literature ◽  
Early Recognition ◽  
Gallstone Formation ◽  
Sludge Formation ◽  
Major Health Problem ◽  
Major Health ◽  
First Case

Acute cholecystitis is a major health problem. There are multiple etiologies to be considered and early recognition of the condition is important to optimize management and outcome. We report the first case in the medical literature of symptomatic acute cholecystitis triggered by ceftriaxone-associated gallbladder sludge formation and, importantly, solid ceftriaxone gallstone formation in an adult patient with underlying mineral and pigment cholecystolithiasis, necessitating cholecystectomy. This case serves as a reminder for physicians to keep this uncommon cause of cholecystolithiasis and cholecystitis in mind in patients who receive prolonged ceftriaxone therapy. These patients should be cautioned to promptly report to their physicians any signs or symptoms of cholecystitis in order to ensure timely and appropriate evaluation.

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

2021 ◽  
Vol 11 (01) ◽  
pp. e38-e41
Author(s):  
Saurabh Maheshwari ◽  
Sonam Yangzom ◽  
K. Uday Bhanu ◽  
Uddandam Rajesh ◽  
Ashok Narayan
Keyword(s):  
Western Europe ◽  
Indian Subcontinent ◽  
Genetic Disorder ◽  
Rare Condition ◽  
Bone Dysplasia ◽  
Feedback Mechanism ◽  
Early Presentation ◽  
First Case ◽  
Cranial Nerve Palsies ◽  
Van Buchem Disease

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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