scholarly journals LESCH NYHAN SYNDROME- UNUSUAL PRESENTATION- A CASE REPORT

2020 ◽  
Vol 8 (11) ◽  
pp. 189-191
Author(s):  
Deepti Singh ◽  
◽  
Shalini Pandey ◽  
Avinash Jha
Keyword(s):  
Uric Acid ◽  
Case Report ◽  
Developmental Delay ◽  
Neonatal Period ◽  
The Body ◽  
Common Presentation ◽  
Behavioral Abnormalities ◽  
Parental Counseling ◽  
Lost To Follow Up

Lesch Nyhan Syndrome (LNS) is a rare hereditary disorder with an incidence of 1 in 380,000. It is a condition characterized by neurological and behavioral abnormalities and uric acid over production in the body. The authors here report a case where developmental delay, a common presentation was complicated by presence of pathological jaundice in neonatal period. It was further complicated by parents shifting to another country and lost to follow up. By the time case was diagnosed and parental counseling was done, mother was already pregnant and 20 weeks into her 2nd pregnancy and abortions were prohibited by law in that country. It is unfortunate that 2nd child is also a male child who is affected.

scholarly journals “Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

2018 ◽  
Vol 24 (4) ◽  
pp. 463-468 ◽  
Author(s):  
Krishnan Nagarajan ◽  
Elango Swamiappan ◽  
Sathiaprabhu Anbazhagan ◽  
Ashwin Dalal ◽  
Subathra Adithan ◽  
...  
Keyword(s):  
Case Report ◽  
Magnetic Resonance ◽  
Developmental Delay ◽  
Cerebral Arteries ◽  
The Body ◽  
Cerebral Vessels ◽  
Genetic Studies ◽  
Girl Child ◽  
Magnetic Resonance Angiographic ◽  
Mutation Type

ACTA2 mutations are recently described genetically defined abnormalities of blood vessels in various organs of the body with specific abnormalities in cerebral vessels in the form of straightening of all cerebral arteries (“twig-like” pattern), stenosis/occlusions, proximal dilatation, and absent “moyamoya” type of collaterals. We describe a one-and-a half year-old girl child who presented with mild motor developmental delay and on neuroimaging showed septo-preoptic holoprosencephaly, diffuse radial polymicrogyria, and pontine hypoplasia along with magnetic resonance angiographic features suggestive of ACTA2 mutation type of cerebral vessels. However, genetic studies revealed no evidence of ACTA2 mutation, indicating that the “twig-like” pattern may not only be a pathognomonic feature of ACTA2 mutations.

scholarly journals Macroglossia Secondary to Systemic Amyloidosis: Case Report and Literature Review

2005 ◽  
Vol 84 (6) ◽  
pp. 358-361 ◽  
Author(s):  
Sandra Doria Xavier ◽  
Ivo Bussoloti Filho ◽  
Helena Müller
Keyword(s):  
Multiple Myeloma ◽  
Case Report ◽  
Literature Review ◽  
Clinical Condition ◽  
Abdominal Fat ◽  
Systemic Amyloidosis ◽  
Systemic Nature ◽  
Lost To Follow Up ◽  
Different Tissues

Amyloidosis is characterized by an abnormal extracellular deposition of amyloid in different tissues and organs, where it usually causes some type of dysfunction. Its cause is unknown. The two main forms of amyloidosis are systemic and localized; the latter is rare. No satisfactory treatment for systemic amyloidosis has been discovered, and mean survival is poor, ranging from 5 to 15 months depending on the presence or absence of multiple myeloma. We report a case of primary systemic amyloidosis in a 71-year-old man. The diagnosis of amyloidosis was established by tongue biopsy, and its systemic nature was identified by analysis of aspirated abdominal fat. At the 1-year follow-up, the patient's clinical condition had not changed, and he was thereafter lost to follow-up.

Giant Cell Lesions with a Noonan-like Phenotype: A Case Report

2007 ◽  
Vol 8 (4) ◽  
pp. 67-73 ◽  
Author(s):  
Manoel Sant'Ana Filho ◽  
Claudia Marcela H. Cancino ◽  
Léonilson Gaião ◽  
Flavio Augusto Marsiaj Oliveira
Keyword(s):  
Case Report ◽  
Giant Cell ◽  
Surgical Intervention ◽  
Heart Defects ◽  
Sporadic Case ◽  
Giant Cells ◽  
The Body ◽  
Phenotypic Characteristics ◽  
Previous Diagnosis

Abstract Aim The purpose of this article is to describe a case of multiple giant cell lesions of the mandible that occurred in a 14-year-old girl with phenotypic characteristics associated with Noonan Syndrome (NS). Background NS is a dysmorphic disorder characterized by hypertelorism, short stature, congenital heart defects, short and webbed neck, skeletal anomalies, and bleeding diathesis. Report A 14-year-old girl with a previous diagnosis of NS (sporadic case) presented with multiple radiolucent lesions in the body and ramus of her mandible. Summary In terms of clinical behavior and the described radiographic characteristics, giant cells lesions with Noonan-like phenotype can be considered a form of cherubism. Therefore, surgical intervention is not necessary, but radiographic follow-up and observation is very important during the control and gradual regression of the lesions. Citation Cancino CMH, Gaião L, Sant'Ana Filho M, Oliveira FAM. Giant Cell Lesions with a Noonan-like Phenotype: A Case Report. J Contemp Dent Pract 2007 May;(8)4:067-073.

scholarly journals A Case of Hypophosphatemiawith Increased Urinary Excretion of Phosphorus Associated with Ibrutinib

2016 ◽  
Vol 9 (1) ◽  
pp. 223-227 ◽  
Author(s):  
Ewa M. Wysokinska ◽  
Amanda M. Thompson ◽  
Carlos R. Franco Palacios
Keyword(s):  
Renal Function ◽  
Uric Acid ◽  
Case Report ◽  
Hematologic Malignancies ◽  
Lymphocytic Leukemia ◽  
Serum Phosphorus ◽  
Phosphorus Level ◽  
First Case ◽  
Initiation Of Therapy

Ibrutinib, an irreversible oral inhibitor of Bruton's tyrosine kinase, has been used in the treatment of patients with multiple hematologic malignancies. A 59-year-old male with chronic lymphocytic leukemia was treated with 420 mg/day of ibrutinib. No evidence of bruising or diarrhea was noted. The treatment was complicated by a transient increase in creatinine (from a baseline of 1.2 to 1.5 mg/dl) and potassium (reaching a peak of 6.5 mEq/l). Uric acid and calcium levels were normal. The patient developed hypophosphatemia (prior to initiation of therapy the serum phosphorus was 2.9 mg/dl). No metabolic acidosis was noted. Urinalysis showed no glucosuria or proteinuria. Urinary fraction of excretion of phosphate was found to be 345% (normal <5%). Because of these changes, ibrutinib was held, and the patient was given kayexalate. Serum potassium normalized. Serum phosphorus was checked a couple of weeks later and also normalized. A lower dose of ibrutinib (140 mg/day) was restarted. Upon follow-up, the phosphorus level has been between 2.9 and 3.2 mg/dl. No further evidence of hyperkalemia has been noted. Renal function has remained at baseline. To the best of our knowledge, this is the first case report describing the mechanism of hypophosphatemia in a patient treated with ibrutinib.

scholarly journals Temporal primary cutaneous carcinosarcoma in the ear: A case report

2021 ◽  
Vol 12 (2) ◽  
pp. 180-182
Author(s):  
Issam Msakni ◽  
Aya Khemir ◽  
Nada Mansouri
Keyword(s):  
Case Report ◽  
Smooth Muscle Actin ◽  
The Body ◽  
Muscle Actin ◽  
Epithelial Component ◽  
Spindle Cells ◽  
Stromal Component ◽  
Peripheral Palisading ◽  
Biphasic Tumor

Carcinosarcoma is a rare biphasic tumor made of two malignant components—the epithelial component and the stromal component—that can develop anywhere on the body, but mainly in sun-exposed areas. We report the case of a 78-year-old male who presented himself with a right temporal tumor in the ear 10 cm in diameter. A biopsy suggested a sarcoma. The patient underwent an extensive surgical resection of the temporal mass and the ipsilateral ear. A microscopic examination of the tumor revealed two intermixed malignant contingents. The epithelial component was made of atypical basaloid cells arranged in nests with peripheral palisading and expressing cytokeratin. The stromal component was made of atypical spindle cells expressing smooth muscle actin (SMA). A diagnosis of primary cutaneous carcinosarcoma with clear margins was reached. The patient is alive and without recurrence after twelve months of a follow-up period.

scholarly journals Prognostic Value of Normal Stress Echocardiography in Obese Patients

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Michele Murphy ◽  
Siva Krothapalli ◽  
Jose Cuellar ◽  
Somsupha Kanjanauthai ◽  
Brian Heeke ◽  
...  
Keyword(s):  
Stress Echocardiography ◽  
Normal Weight ◽  
Emergency Department Visits ◽  
The Body ◽  
Noninvasive Evaluation ◽  
Obese Patients ◽  
Cardiac Events ◽  
Obese Subjects ◽  
Lost To Follow Up

Background.Chest pain is a common problem in obese patients. Because of the body habitus, the results of noninvasive evaluation for CAD may be limited in this group.Methods.We reviewed the records of 1446 consecutive patients who had undergone clinically indicated stress echocardiography (SE). We compared major adverse cardiac events (MACE; myocardial infarction, cardiac intervention, cardiac death, subsequent hospitalization for cardiac events, and emergency department visits) at 1 year in normal weight, overweight, and obese subjects with normal SE.Results.Excluding patients with an abnormal and indeterminate SE and those who were lost to follow-up, a retrospective analysis of 704 patients was performed. There were 366 obese patients (BMI ≥ 30), 196 overweight patients (BMI 25–29.9), and 142 patients with normal BMI (18.5–24.9). There was no MACE in the groups at 1-year follow-up after a normal SE.Conclusions.In obese patients including those with multiple risk factors and symptoms concerning for cardiac ischemia, stress echocardiography is an effective and reliable noninvasive tool for identifying those with a low 1-year risk of cardiac events.

Dyskeratosis congenita: a case report on a rare disease

2020 ◽  
pp. 1-10
Author(s):  
Sehar Khaliq ◽  
Syed Kumail Hasan Kazmi
Keyword(s):  
Case Report ◽  
Haematopoietic Stem Cell Transplantation ◽  
Financial Constraints ◽  
Skin Pigmentation ◽  
Dyskeratosis Congenita ◽  
Haematopoietic Stem Cell ◽  
The Family ◽  
Clinical Triad ◽  
Lost To Follow Up

Abstract Dyskeratosis congenita is a very rare inherited haematological disorder characterised by a classical clinical triad of leukoplakia, skin pigmentation and dystrophied nails. Here is a case of a young patient who presented with brittle nails, lacy hyperpigmentation of the skin and leukoplakia along with pancytopenia. Haematopoietic stem cell transplantation is the only cure for this disease but due to financial constraints of the family it was not possible. The patient was placed on androgen therapy and showed favourable response but later was lost to follow-up. Keywords: Dyskeratosis Congenita, Pancytopenia, Continuous...

scholarly journals A case report of disseminated cysticercosis in Bali, Indonesia

2017 ◽  
Vol 1 (2) ◽  
pp. 1
Author(s):  
A.A Raka Sudewi ◽  
Toni Wandra ◽  
Oka Adnyana ◽  
NFN Moestikaningsih ◽  
A A.B.N. Nuartha ◽  
...  
Keyword(s):  
Case Report ◽  
Side Effects ◽  
Ct Scan ◽  
Recombinant Antigen ◽  
The Body ◽  
Antibody Responses ◽  
Repeated Treatment ◽  
Subcutaneous Nodules ◽  
The Brain

Abstract. We reported the case of a 36-year-old Balinese man who disseminated cysticercosis, presented neuro-, subcutaneous- and oral-cysticercosis. Diagnosis of it was based on anamnesis, clinical examination including CT Scan, histopathological and serological examinations. The patient visited outpatient clinic of Sanglah Denpasar Hospital in Bali, in June 2003 with two subcutaneous nodules in the body. Serological examinations (ELISA and immnunoblot) used both purified glycoproteins and chimeric recombinant antigen were positive. The two subcutaneous nodules disappeared after treatment with albendazole. In January 2004, the patient presented neuro-, and oral-cysticercosis. CT Scan showed multiple active lesions in the brain. During the treatment with 800 mg albendazole daily during for one month. The side effects of it such as nausea and vomit were found in that patient. Antibody responses in ELISA and immnunoblot were still positive and follow up CT scan in May 2004, it showed that very similar figures as previously. Repeated treatment with 400mg albendazole daily for one and half month was applied. Antibody responses became low, and CT scan in March 2006 did not show any active cysts but only calcified lesions.

scholarly journals Retained plastic biliary stent presenting with obstructive jaundice: a case report

2021 ◽  
Vol 8 (9) ◽  
pp. 2792
Author(s):  
Gayatri Muley ◽  
Waqar Ansari ◽  
Atish Parikh ◽  
Dhiraj Kachare ◽  
Urvashi Jain ◽  
...  
Keyword(s):  
Case Report ◽  
Obstructive Jaundice ◽  
Biliary Obstruction ◽  
Biliary Stent ◽  
Plastic Stent ◽  
History Of ◽  
Lost To Follow Up ◽  
Cbd Exploration

Forgotten stents may lead to serious complications. We present a case report of a forgotten common bile duct (CBD) fully covered plastic stent presenting with Obstructive Jaundice. A 66 years-old female patient presented with features of obstructive jaundice. Further enquiry revealed a history of ERCP guided biliary stent placement 12 years ago, after which she was lost to follow up. An endoscopic attempt to retrieve the old stent and relieve biliary obstruction was unsuccessful, and a fresh stent was placed across the CBD following a sphincterotomy. CT showed evidence of a stent in situ, alongside calcified fragments of the previous stent and multiple CBD stones. Patient was taken up for surgery and Roux-en-y hepaticojejunostomy was performed following CBD exploration and retrieval of the stent-stone complex.

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