scholarly journals A Case of Rett Syndrome

2018 ◽  
Vol 29 (11-12) ◽  
pp. 241-4
Author(s):  
Samuel Lazuardi ◽  
Najib Advani ◽  
Sofyan Ismael
Keyword(s):  
Physical Examination ◽  
Laboratory Test ◽  
Rett Syndrome ◽  
Clinical Manifestations ◽  
Perinatal Period ◽  
Psychomotor Development ◽  
Hand Movements ◽  
First Case ◽  
History Of ◽  
Normal Head

A case of Rett syndrome in a-3 ½ year-old girl is presented. The patient had normal pre and perinatal period and normal psychomotor development till the age of 14 months, followed by behavioural, social and psychomotor regression. Physical examination revealed a below normal head circumference, loss of eye and psychic contact, stereotypic hand movements and gait disturbance. No laboratory test can confirm the diagnosis of Rett syndrome, therefore the diagnosis was established by virtue of history of illness and clinical manifestations. This is the first case of Rett syndrome found and reported in Indonesia.

scholarly journals Neonatal Sacrococcygeal Neuroblastoma Mimicking a Teratoma

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Leticia Gely ◽  
Humberto Lugo-Vicente ◽  
María Correa-Rivas ◽  
Kary Bouet ◽  
Zayhara Reyes Bou ◽  
...  
Keyword(s):  
Puerto Rico ◽  
Physical Examination ◽  
Preoperative Diagnosis ◽  
Neonatal Period ◽  
Newborn Infants ◽  
Stage Iv ◽  
Sacrococcygeal Teratoma ◽  
First Case ◽  
History Of ◽  
Adequate Prenatal Care

We reported the first case of a congenital intrapelvic presacral neuroblastoma in Puerto Rico managed in the early neonatal period. The preoperative diagnosis was a sacrococcygeal teratoma Altman stage IV classification. This case confirms the importance of a comprehensive physical examination and observation of low-risk newborn infants with a history of adequate prenatal care and an unremarkable fetal ultrasonogram during pregnancy.

scholarly journals Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Esteban Uribe-Bojanini ◽  
Sara Hernandez-Quiceno ◽  
Alicia María Cock-Rada
Keyword(s):  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Panel Testing ◽  
First Case ◽  
Skin Malignancy ◽  
Increased Risk ◽  
History Of

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

scholarly journals Unusual Clinical Manifestations of Chronic Discoid Lupus Erythematosus

2014 ◽  
Vol 6 (2) ◽  
pp. 69-72
Author(s):  
Ljubka Miteva ◽  
Valentina Broshtilova ◽  
Robert A. Schwartz
Keyword(s):  
Physical Examination ◽  
Alopecia Areata ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Clinical History ◽  
Discoid Lupus Erythematosus ◽  
Histopathological Analysis ◽  
Scarring Alopecia ◽  
History Of ◽  
Scalp Lesions

Abstract A 22-year-old woman with a 3-year history of discoid lupus erythematosus presented with two circumscribed patches of non-scarring alopecia, clinically simulating alopecia areata. Histopathological analysis of scalp lesions revealed discoid lupus erythematosus. Based on the clinical history, physical examination, and histological and immunological findings, we distinguished our case from a true combination of alopecia areata and typical chronic discoid lupus erythematosus.

scholarly journals Arthritis in Idiopathic Inflammatory Myopathy: Clinical Features and Autoantibody Associations

2014 ◽  
Vol 41 (6) ◽  
pp. 1133-1139 ◽  
Author(s):  
Martin Klein ◽  
Heřman Mann ◽  
Lenka Pleštilová ◽  
Zoe Betteridge ◽  
Neil McHugh ◽  
...  
Keyword(s):  
Physical Examination ◽  
Clinical Features ◽  
Strong Association ◽  
Inflammatory Myopathy ◽  
Clinical Manifestations ◽  
Idiopathic Inflammatory Myopathy ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
History Of ◽  
Autoantibody Status

Objective.To determine the prevalence, distribution, and clinical manifestations of arthritis in a cohort of patients with idiopathic inflammatory myopathies (IIM). Associations with autoantibody status and HLA genetic background were also explored.Methods.Consecutive patients with IIM treated in a single center were included in this cross-sectional study (n = 106). History of arthritis, 68-joint and 66-joint tender and swollen joint index, clinical features of IIM, and autoantibody profiles were obtained by clinical examination, personal interview, and review of patient records. High-resolution genotyping in HLA-DRB1 and HLA-DQB1 loci was performed in 71 and 73 patients, respectively.Results.A combination of patients’ medical history and cross-sectional physical examination revealed that arthritis at any time during the disease course had occurred in 56 patients (53%). It was present at the beginning of the disease in 39 patients (37%) including 23 cases (22%) with arthritis preceding the onset of muscle weakness. On physical examination, 29% of patients had at least 1 swollen joint. The most frequently affected areas were wrists, and metacarpophalangeal and proximal interphalangeal joints. Twenty-seven out of the 29 anti-Jo1-positive patients had arthritis at any time during the course of their illness; this prevalence was significantly higher compared to patients without the anti-Jo1 autoantibody (p < 0.0001). No association of arthritis with individual HLA alleles was found.Conclusion.Our data suggest that arthritis is a common feature of myositis. It is frequently present at the onset of disease and it may even precede muscular manifestations of IIM. The most common presentation is a symmetrical, nonerosive polyarthritis affecting particularly the wrists, shoulders, and small joints of the hands. We have confirmed a strong association of arthritis with the presence of the anti-Jo1 antibody.

scholarly journals I. History of two cases of hernia of the ovaries, in one of which there was a periodical enlargement of one or other of these organs

1857 ◽  
Vol 8 ◽  
pp. 377-380
Keyword(s):  
Physical Examination ◽  
Royal Society ◽  
Direct Evidence ◽  
Gradual Reduction ◽  
First Case ◽  
History Of ◽  
The Subject ◽  
Physiological Peculiarity

The two cases which I beg to present to the Royal Society, are examples of a rare conformation of the female sexual organs, in which the two ovaria have descended through the inguinal canals and have become permanently lodged in the upper part of the external labia; and in both of them the most careful and repeated physical examination has failed to detect either uterus or vagina. I should hardly, however, have ventured to bring them before the Society simply as examples of faulty conformation—because, although rare, yet they have been observed—had not the first of the two cases presented the interesting physiological peculiarity of a spontaneous periodical increase of one or other of the ovaria, followed by its gradual reduction, thus supplying direct evidence of an ovarian menstrual act. The subject of the first case applied to me in September 1851 for advice on account of never having menstruated.

Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss

2020 ◽  
Vol 160 (5) ◽  
pp. 245-254
Author(s):  
Ekaterina N. Tolmacheva ◽  
Anna A. Kashevarova ◽  
Lyudmila P. Nazarenko ◽  
Larisa I. Minaycheva ◽  
Nikolay A. Skryabin ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Deficiency Syndrome ◽  
Incomplete Penetrance ◽  
Microdeletion Syndromes ◽  
First Case ◽  
History Of

Chromosomal microdeletion syndromes present with a wide spectrum of clinical phenotypes that depend on the size and gene content of the affected region. In a healthy carrier, epigenetic mechanisms may compensate for the same microdeletion, which may segregate through several generations without any clinical symptoms until the epigenetic modifications no longer function. We report 2 novel cases of Xq24 microdeletions inherited from mothers with extremely skewed X-chromosome inactivation (sXCI). The first case is a boy presenting with X-linked mental retardation, Nascimento type, due to a 168-kb Xq24 microdeletion involving 5 genes (CXorf56, UBE2A, NKRF, SEPT6, and MIR766) inherited from a healthy mother and grandmother with sXCI. In the second family, the presence of a 239-kb Xq24 microdeletion involving 3 additional genes (SLC25A43, SLC25A5-AS1, and SLC25A5) was detected in a woman with sXCI and a history of recurrent pregnancy loss with a maternal family history without reproductive wastages or products of conception. These cases provide evidence that women with an Xq24 microdeletion and sXCI may be at risk for having a child with intellectual disability or for experiencing a pregnancy loss due to the ontogenetic pleiotropy of a chromosomal microdeletion and its incomplete penetrance modified by sXCI.

scholarly journals Bilateral hamstring origin calcification: rare presentation of Gitelman syndrome

2020 ◽  
Vol 13 (1) ◽  
pp. e227992
Author(s):  
Rahul Mohan ◽  
Satish Vinayakrao Dhotare ◽  
P Nithin Unnikrishnan ◽  
Chetan Jakaraddi
Keyword(s):  
Clinical Manifestations ◽  
Ischial Tuberosity ◽  
Gitelman Syndrome ◽  
Normal Blood Pressure ◽  
Rare Presentation ◽  
Sodium Chloride Cotransporter ◽  
First Case ◽  
Genes Encoding ◽  
History Of ◽  
Magnesium Transporters

This case report is the first case to our knowledge of intratendinous or peritendinous calcification reported in Gitelman syndrome (GS) patients. GS represents the clinical manifestations of inactivation of the Slc12a3 genes encoding the thiazide-sensitive sodium chloride cotransporter and the Trpm6-Mg genes encoding the magnesium transporters in the distal convoluted tubule. Hence, the biochemical findings resemble those with thiazide diuretics such as hypokalaemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis and low normal blood pressure. Serum calcium and phosphate levels are usually unaffected in GS unless associated with hyperparathyroidism or other hypercalcaemic aetiologies. We report a 69-year-old male patient with a history of GS who presented with bilateral ischial tuberosity tenderness. Further investigations confirmed the calcification of bilateral hamstring origin. Chondrocalcinosis is a known association of GS; however, extra-articular calcification is rare. Literature review illustrates sclerochoroidal calcification as the only reported soft tissue calcification apart from chondrocalcinosis.

scholarly journals Bilateral auricular aneurysm with intact pericardial sac in a dog

2021 ◽  
Vol 14 (1) ◽  
pp. 46-49
Author(s):  
Aline Viott ◽  
◽  
Mayane Faccin ◽  
Mônica Matos ◽  
João Cavasin ◽  
...  
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Physical Examination ◽  
Clinical Signs ◽  
Adequate Treatment ◽  
First Case ◽  
History Of

A nine-year-old, male, Pekingese dog was presented with a history of dyspnea, lethargy, syncope, polyuria, polydipsia, and selective appetite over two years. When the clinical signs first began, a radiographic exam revealed a radiopaque mass in the cranial mediastinum. An adequate treatment was not performed and the dog was presented to the hospital with severe tachycardia, dyspnea, and tachypnea, and died during physical examination. On necropsy, the heart presented bilateral auricular aneurysms. The pericardial sac was intact, and no other defects were found within the heart. Microscopically, the cardiomyocytes were marked degenerated and proliferation of connective tissue. This is the first case report of a bilateral auricular aneurysm with intact pericardial sac in a dog.

scholarly journals COVID-19 in a Child with Primary Specific Antibody Deficiency

2020 ◽  
Author(s):  
Hamid Ahanchian ◽  
Nasrin Moazzen ◽  
Majid Sezavar Dokht Faroughi ◽  
Negar Khalighi ◽  
Maryam Khoshkhui ◽  
...  
Keyword(s):  
Specific Antibody ◽  
Clinical Manifestations ◽  
Antibody Deficiency ◽  
Case Presentation ◽  
Specific Antibody Deficiency ◽  
First Case ◽  
Appropriate Treatment ◽  
Wide Range ◽  
History Of ◽  
Underlying Diseases

Abstract Background. In the recent coronavirus disease 2019 (COVID-19) pandemic, millions of people have been affected so far. Clinical manifestations and natural history of infections have a very wide range, which is important to know it in various underlying diseases. Although children are less affected than adults, its presentation especially in those with underlying diseases should not be neglected.Case presentation. Herein we report the first case of specific antibody deficiency, who was affected with COVID-19. The patient suffered from rhinorrhea and modestly increased in productive cough, but real-time reverse transcription polymerase chain reaction was positive for COVID-19.Conclusions. Although presentation of COVID-19 in patients with immunodeficiency could be mild, it should not be missed, while early diagnosis and appropriate treatment can survive affected patients.

scholarly journals Electroencephalogram and clinical manifestations of Rett syndrome in children

2016 ◽  
Vol 43 (4) ◽  
pp. 121
Author(s):  
E S Herini ◽  
I Mangunatmadja ◽  
Purboyo S ◽  
Hardiono D Pusponegoro ◽  
Sunartini Sunartini
Keyword(s):  
Rett Syndrome ◽  
Clinical Stage ◽  
Clinical Manifestations ◽  
Epileptic Seizures ◽  
Spike Discharge ◽  
History Of ◽  
Cortical Involvement ◽  
Almost All ◽  
Electroencephalogram Eeg ◽  
Epileptic Spike

Background Rett Syndrome (RS) is a severe neurodevelopmentaldisorder. Epileptic seizures occur in 80-90%; grandmal, psychomo-tor (complex partial), and focal motor seizures have been reported.The electroencephalogram(EEG) is almost always abnormal.Objective This study aimed to investigate the EEG and clinicalmanifestations of children with RSResults We investigated EEG on 5 patients with RS aged 30–66month. One patient was in clinical stage II and 4 patients in clini-cal stage III. Four patients had history of seizures, however onlytwo patients suffered from epilepsy. The EEG demonstrated slow-ing background activity in occipital region in two patients. In addi-tion, epileptic form activities were observed in 4 of 5 patients.Conclusion We concluded that epileptic spike discharge with orwithout clinical seizures were found in almost all of our RS pa-tients. These paroxysmal discharges suggested the process andthe sequences of cortical involvement. Compelling clinical, neuro-physiological evidences were very important to decide the stageof Rett disorder

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