Atypical Presentation of Congenital Yellow Nail Syndrome in a 2-Year-Old Female

2013 ◽  
Vol 17 (1) ◽  
pp. 66-68 ◽  
Author(s):  
Michael Cecchini ◽  
Joseph Doumit ◽  
Nordau Kanigsberg
Keyword(s):  
Rare Case ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Clinical Entity ◽  
Unknown Etiology ◽  
Close Monitoring ◽  
Yellow Nail Syndrome ◽  
Atypical Clinical Presentation

Background: Yellow nail syndrome (YNS) is a rare clinical entity of unknown etiology that is characterized by a triad of yellow nails, respiratory manifestations, and lymphedema. The condition appears in the mid- to later years of life and only rarely in childhood. We describe a rare case of YNS with an atypical clinical presentation consisting of only yellow and dystrophic nails in a 2- year-old female since birth. Objective: A case of congenital YNS with only dystrophic and yellow nails is reported. Methods and Results: A 2-year-old female presented with yellow nails since birth. There was no positive family history. Physical examination revealed 20 thickened, dystrophic, yellow nails with onycholysis. There was no evidence of respiratory manifestations or lymphedema. Conclusion: Although rare, YNS can present as a congenital clinical entity and persist after birth. Pediatric patients with YNS show different clinical manifestations than the classic adult patient. The presence of yellow and dystrophic nails in the absence of respiratory and lymphatic manifestations may be the only sign of pathology and warrants close monitoring as progression to more serious complications can occur.

Atypical clinical presentation of visceral leishmaniasis: a rare case without splenomegaly

2019 ◽  
Vol 49 (3) ◽  
pp. 233-234
Author(s):  
Mirella Alves Cunha ◽  
Amanda Ginani Antunes ◽  
Marcela Mara Eufrasio de Azevedo ◽  
James Farley Rafael Maciel ◽  
Henio Godeiro Lacerda
Keyword(s):  
Visceral Leishmaniasis ◽  
Rare Case ◽  
Endemic Area ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Atypical Clinical Presentation ◽  
Splenic Size

Clinical manifestations of visceral leishmaniasis (VL) usually include splenomegaly. We report a case of a woman from an endemic area with fever but normal splenic size. This is rare, especially in patients not immunocompromised.

scholarly journals Development of Myocardial Infarction in a 12-Year-Old Female after the Use of Inhaled Salbutamol

2020 ◽  
Vol 09 (04) ◽  
pp. 295-298
Author(s):  
Can Yilmaz Yozgat ◽  
Selcuk Uzuner ◽  
Hafize Otcu Temur ◽  
Serap Nur Ergor ◽  
Aynur Guliyeva ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Myocardial Ischemia ◽  
Pediatric Patients ◽  
Clinical Manifestations ◽  
Symptomatic Patient ◽  
Clinical Findings ◽  
Close Monitoring ◽  
Myocardial Ischemia And Infarction ◽  
Sporadic Cases ◽  
Tomography Scan

AbstractAnomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) accounts for 0.023% of all cases reported in pediatric patients. According to literature, only a handful of ALCAPA patients are able to reach adulthood. Clinical manifestations of ALCAPA range from fatigue during exercise to sudden death in adulthood. Herein, we described a 12-year-old symptomatic patient with ALCAPA who had severe chest pain after using salbutamol treatment for presumed asthma. ALCAPA is one of the curable versions of myocardial ischemia and infarction in childhood. Due to clinical findings in conjunction with electrocardiogram and echocardiography, a computed tomography scan with coronary angiography was performed and the diagnosis of ALCAPA was confirmed. We presented this case because ALCAPA-related myocardial ischemia and infarction in children are rare with only sporadic cases reported. This case illustrated the need for close monitoring and surgery as the best treatment for ALCAPA associated with myocardial infarction.

scholarly journals Primary hydatid cyst of the psoas adherent to the aortoiliac axis: a real therapeutic challenge

2021 ◽  
Vol 7 (7) ◽  
pp. 363
Author(s):  
Anwar Rahali ◽  
Rahal Mssrouri ◽  
Marouane Baiss ◽  
Abderrahmane Mansouri ◽  
Hamid Mohamed ◽  
...  
Keyword(s):  
Literature Review ◽  
Hydatid Cyst ◽  
Rare Case ◽  
Essential Role ◽  
Histological Analysis ◽  
Clinical Presentation ◽  
Atypical Clinical Presentation ◽  
Residual Cavity ◽  
Primary Hydatid Cyst

<p class="abstract">Hydatidosis of the psoas is an unusual entity even in countries endemic to hydatid disease. We reported a rare case of hydatid cyst of psoas in a 54 year old man without pathological history. The atypical clinical presentation and the uncharacterizable radiology have demonstrated the essential role of surgery and histological analysis in the management of this type of lesion. The patient underwent a resection of the protruding dome with drainage of the residual cavity  because of the anatomical relationships of this hydatid cyst. Through this case and literature review, we aimed to discuss the diagnostic means, the natural course of the disease, the differential diagnoses as well as the therapeutic options for a hydatid cyst of the psoas.</p>

scholarly journals APPENDICEAL MUCOCOELE WITH PARTIAL NON ROTATION OF GUT – A RARE CASE REPORT

2020 ◽  
pp. 1-2
Author(s):  
Shirish Bhagvat ◽  
Nikhil Dhimole
Keyword(s):  
Abdominal Pain ◽  
Rare Case ◽  
Patient Management ◽  
Clinical Presentation ◽  
Delayed Diagnosis ◽  
Laparoscopic Approach ◽  
Intermittent Abdominal Pain ◽  
Atypical Clinical Presentation ◽  
Rare Case Report

Mucocoele of appendix and partial non-rotation of gut are rare pathological entities, and when they are present together they pose diagnostic and therapeutic difficulties due to atypical clinical presentation. This dilemma of varied clinical presentation can lead to delayed diagnosis and complications, thereby adversely affecting patient management and outcome. We report a 33 year old lady, presenting with intermittent abdominal pain in the periumbillical since 3 months diagnosed to have an appendiceal mucocoele with partial non rotation of gut on imaging. The patient underwent laparoscopic appendectomy and was discharged on post operative day 1 following an uneventful course with no recurrence on 6 months of follow up. Histopathology of the specimen confirmed the diagnosis of mucocoele of appendix with no evidence of malignancy. To our knowledge, this is the first reported case of mucocoele of appendix with partial non rotation of gut managed with minimally invasive laparoscopic approach.

Eosinophilic Pustular Folliculitis

PEDIATRICS ◽  
1992 ◽  
Vol 89 (6) ◽  
pp. 1095-1098
Author(s):  
GARY L. DARMSTADT ◽  
WALTER W. TUNNESSEN ◽  
RONALD J. SWEREN
Keyword(s):  
Differential Diagnosis ◽  
Effective Treatment ◽  
Clinical Experience ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Clinical Entity ◽  
Treatment Modalities ◽  
First Report ◽  
Eosinophilic Infiltrate ◽  
Insight Into

Eosinophilic pustular folliculitis is a cutaneous disorder that consists of recurrent crops of pruritic, sterile, papulopustules in a follicular distribution. In pediatric patients, EPF presents primarily in the scalp and is confused with several other more common dermatoses in children. The diagnosis of EPF rests on its inclusion in the differential diagnosis of papulo-pustular disorders, the recognition of the clinical presentation, and the presence of an eosinophilic infiltrate on biopsy. Treatment with midpotency topical coticosteroids has thus far met with modest success. This is the first report on EPF in the pediatric literature. As pediatricians become more aware of EPF as a distinct clinical entity and as our clinical experience and insight into the pathogenesis of EPF grows, perhaps more effective treatment modalities will be devised.

scholarly journals A Case of Subcutaneous Sarcoidosis Occurring along the Superficial Veins of the Forearms: A Distinctive Cutaneous Manifestation Masquerading Venous Tropic Action in the Underlying Systemic Disease

2017 ◽  
Vol 9 (1) ◽  
pp. 108-113 ◽  
Author(s):  
Haruka Koizumi ◽  
Noritaka Oyama ◽  
Yukinori Hayakawa ◽  
Minoru Hasegawa
Keyword(s):  
Clinical Presentation ◽  
Systemic Disease ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Underlying Disease ◽  
Unknown Etiology ◽  
Multisystem Disease ◽  
Old Japanese ◽  
Skin Nodules ◽  
Systemic Sarcoidosis

Sarcoidosis is a multisystem disease of unknown etiology, developing granulomas in any tissues and organs. Approximately 25% of sarcoidosis patients have cutaneous involvement with various clinical manifestations, which are categorized into specific or nonspecific diseases based on the histopathology; the former represents the typical sarcoid granulomas. Subcutaneous sarcoidosis is one of the specific skin lesions and often affects extremities, to a much lesser extent with other anatomical sites. Herein, we report the case of an 82-year-old Japanese man with subcutaneous sarcoidosis whose skin nodules exclusively overlay the lines of superficial veins on the forearms. This rare clinical presentation was discussed with the literature reported thus far to access the underlying disease pathophysiology from the viewpoint of tropic response to the venous system in systemic sarcoidosis.

Cardiac Tumors in Pediatric Patients: A Systematic Review

2017 ◽  
Vol 8 (5) ◽  
pp. 624-632 ◽  
Author(s):  
Aspasia Tzani ◽  
Ilias P. Doulamis ◽  
Konstantinos S. Mylonas ◽  
Dimitrios V. Avgerinos ◽  
Dimitrios Nasioudis
Keyword(s):  
Systematic Review ◽  
Poor Prognosis ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Current Evidence ◽  
Cardiac Tumors ◽  
Tumor Relapse ◽  
The Poor ◽  
Atypical Clinical Presentation ◽  
Primary Cardiac Tumors

This systematic review sought to investigate the current evidence regarding surgical management of primary cardiac tumors in children and adolescents. Twenty-eight studies were deemed eligible, reporting on 745 pediatric patients. Rhabdomyoma was the most prevalent histologic type and echocardiography was the most common diagnostic tool. Cumulative 30-day mortality rate was 6.7%. Rhabdomyomas and teratomas had the highest 30-day mortality. The higher percentage of tumor relapse was noted for myxoma and teratoma. Although cardiac tumors are rare, their atypical clinical presentation, potential for recurrence, and the poor prognosis associated with recurrence elucidate the need for reliable diagnostic and therapeutic management.

scholarly journals A rare case of collodion baby with ophthalmic involvement

1970 ◽  
Vol 4 (1) ◽  
pp. 184-186 ◽  
Author(s):  
U Bhardwaj ◽  
A Phougat ◽  
M Dey ◽  
S Raut ◽  
G Srivastav ◽  
...  
Keyword(s):  
Rare Case ◽  
Clinical Manifestations ◽  
Neck Region ◽  
Severe Form ◽  
Clinical Entity ◽  
Pediatric Department ◽  
Collodion Baby

Background: Ichthyosis is an infrequent clinical entity worldwide (1:300,000 births). When diagnosed in a newborn, two forms can be identified: collodion baby and its most severe form, harlequin fetus or maligna keratoma. In both cases, clinical manifestations are thick and hard skin with deep splits. The splits are more prominent in the flexion areas. Case: We report a case of a 4- day-old baby who was referred to JNMC Eye OPD by the Pediatric Department of the JNMC. He was having severe bilateral ectropion of the upper lids and chemosis of conjuntiva, without corneal involvement. There was distortion of the pinna and peeling of the skin, more over the chest around the neck region and over the flexor aspect of limbs. Conclusion: Management of collodion baby requires a multi-disciplinary approach. DOI: http://dx.doi.org/10.3126/nepjoph.v4i1.5874 NEPJOPH 2012; 4(1): 184-186

scholarly journals An Intraarticular Osteoid Osteoma: A Case Report & Review of Literature

2014 ◽  
Vol 3 (2) ◽  
pp. 77-80
Author(s):  
AR Pant ◽  
MK Gupta ◽  
PK Santhalia ◽  
K Ahmad ◽  
RPS Kalawar ◽  
...  
Keyword(s):  
Shoulder Pain ◽  
Osteoid Osteoma ◽  
Rare Case ◽  
Clinical Presentation ◽  
Review Of Literature ◽  
Delay In Diagnosis ◽  
Atypical Clinical Presentation ◽  
The Common ◽  
Central Calcification ◽  
Chronic Shoulder Pain

 Osteoid osteoma (OO) is one of the common benign bone tumors but an uncommon cause of musculoskeletal pain. Its diagnosis is usually not difficult in classic clinical setup and in typical location in diaphyseal region. However, the diagnosis of juxta or intraarticular osteoid osteoma (IAOO) is challenging because of atypical clinical presentation responsible for delay in diagnosis and treatment. We report a rare case of IAOO as a cause of chronic shoulder pain to make clinician aware to help in its early diagnosis and management. A 28-year-old woman presented with chronic debilitating right shoulder pain. The diagnosis was established on CTscan after 2 years of onset of symptoms because of atypical clinical presentation as a chronic monoarthritis of the shoulder. CTscan demonstrated radiolucent nidus with central calcification with areas of surrounding sclerosis. The tumor was excised surgically and histopathologic examination confirmed the diagnosis of osteoid osteoma. So, in the scenario of an unexplained chronic monoarthritis, the possibility of intraarticular osteoid osteoma should also be kept in mind. CT-scan remains the investigation of choice for demonstrating the nidus and surgical exicision relieves the symptoms.  DOI: http://dx.doi.org/10.3126/njr.v3i2.9615   Nepalese Journal of Radiology Vol.3(2)July-Dec, 2013: 77-80

P902Danon disease: clinical features and outcomes

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
M Brambatti ◽  
Y Esshaki ◽  
S Vanam ◽  
V Escobedo ◽  
G Macias ◽  
...  
Keyword(s):  
Clinical Features ◽  
Clinical Presentation ◽  
De Novo ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
De Novo Mutation ◽  
Rank Test ◽  
De Novo Mutations ◽  
Cardiac Morbidity ◽  
Danon Disease

Abstract Background Danon Disease (DD) is a rare X-linked autophagic vacuolar myopathy, characterized by high penetrance and severe cardiomyopathy; cognitive, skeletal muscle and vision impairment may occur as well. Due to its rarity, clinical presentation and outcomes are still uncertain. Purpose To describe clinical features and outcomes of DD in female and male patients Methods Individuals and families from United Kingdom, Australia, and United States were recruited through via advertisements on Facebook groups related to DD. Participants completed a survey about symptoms and medical history and provided their medical records to the research team. Results A total of 44 patients (54.5% female) with positive genetic testing for DD were included. De novo mutations occurred in one out of four patients. Cardiomyopathy occurred in 86.3% of patients (18/24 females, 20/20 males) at a mean age of 7.3 years for males and 19.4 years for females (p=0.001). Females presented with either hypertrophic cardiomyopathy (HCM, 66.7%) or dilated cardiomyopathy (DCM, 8.3%) whereas males presented with HCM 90% of the time. 34.2% of patients were diagnosed with Wolff-Parkinson-White syndrome. Twelve patients (7 females, 5 males) underwent cardiac magnetic resonance (CMR) Out of the 9 cases, 8 (88.9%) exhibited extensive patchy late gadolinium-enhancement (LGE) in multiple segments of the left ventricle; 3 cases also had right ventricular LGE. Median cardiac mass index was 155 g/m2 (Q1-Q3: 70–237; v.n. 31–79 g/m2). Overall, 17 (38.6%) patients died or required or heart transplant (HTx). Median age at the time of death or HTx was 17 years and 42 years in males and females, respectively (p=0.025 by the log-rank test) Cognitive impairment, mainly described as learning disabilities, was diagnosed in 90.0% of males (18/20) and 79.2% (19/24) of females; intelligence quotient (IQ) measurement was reported in 8 patients (3 females, 5 males) and 7 of them showed IQ below the average. Symptomatic skeletal myopathy was present in 28 (63.3%) of patients, with a higher prevalence in males (85% vs. 45.8%; p<0.01). Retinopathy was reported in 14 (31.2%) patients and occurred equally in both genders (p=0.34). Conclusions DD causes significant cardiac morbidity with the need for transplant at a young age; in 25% of cases DD is due to a de novo mutation. While in males DD is more frequently multisystemic with a more rapid clinical deterioration, in females the clinical presentation is variable. However, the presence of severe cases in females warrant the clinicians to screen for DD in both sexes with clinical manifestations or positive family history Acknowledgement/Funding Rocket Pharmaceuticals

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