scholarly journals Bifid epiglottis with midline laryngeal hamartoma: a rare presentation of Pallister Hall syndrome

2020 ◽  
Vol 7 (12) ◽  
pp. 2406
Author(s):  
Saravanamuthu Thirunavukkarasu ◽  
Kishore Sandu ◽  
Sasikumar Revathy ◽  
Singaravelu Ramesh ◽  
Selvarajan Namasivayam
Keyword(s):  
Early Diagnosis ◽  
Respiratory Distress ◽  
Genetic Counselling ◽  
Imperforate Anus ◽  
Hirschsprung's Disease ◽  
Male Child ◽  
Rare Presentation ◽  
Hypothalamic Hamartomas ◽  
Laryngeal Lesion ◽  
Malformation Syndromes

Bifid epiglottis is a rare laryngeal anomaly that can be an isolated occurrence or as part of malformation syndromes, commonly the Pallister Hall syndrome (PHS). PHS presents with hypothalamic hamartomas, polysyndactyly, bifid epiglottis, imperforate anus and genitourinary abnormalities. We report a case of a 22 months old male child with features of PHS and Hirschsprung's disease. The presentations are with a hypothalamic mass, a bifid epiglottis and a midline mass in the larynx with symptoms of respiratory distress. The laryngeal lesion was endoscopically excised and its histology confirmed as hamartoma (laryngeal). The importance of an early diagnosis of PHS, genetic counselling and prompt management of a compromised airway and endocrine abnormalities is emphasized to have a better outcome.

scholarly journals A case of acute limb ischemia

2021 ◽  
Vol 8 (10) ◽  
pp. 1608
Author(s):  
Kshiti Rai ◽  
K. G. Sajeeth Kumar ◽  
Danish Ekkalayil ◽  
Anoop Chanthu K. K.
Keyword(s):  
Acute Myeloid Leukemia ◽  
Early Diagnosis ◽  
Lower Limb ◽  
Myeloid Leukemia ◽  
Hematological Malignancy ◽  
Limb Ischemia ◽  
Acute Limb Ischemia ◽  
Rare Presentation ◽  
Hematological Evaluation ◽  
Acute Myeloid

Thromboembolism is a well-recognized complication of hematological malignancy. The incidence of symptomatic thrombosis at diagnosis is relatively low in AML (acute myeloid leukemia) patients, though its incidence increases on treatment with anthracyclines. We reported a case of 69 year old female with T2DM who presented with DVT and later on acute limb ischemia of the same lower limb. On hematological evaluation, she had leukocytosis and thrombocytopenia. Further evaluation revealed AML. Thromboembolism as a rare presentation of AML in adults with leukemic hyperleukocytosis has seldom been reported. In the absence of clear guidelines, early diagnosis and management are desirable.

scholarly journals Synovial sarcoma presenting as subcutaneous swelling: a rare presentation

2019 ◽  
Vol 6 (6) ◽  
pp. 2190
Author(s):  
Dheer S. Kalwaniya ◽  
Jaspreet S. Bajwa
Keyword(s):  
Soft Tissue ◽  
Early Diagnosis ◽  
Knee Joint ◽  
Synovial Sarcoma ◽  
Lower Risk ◽  
Soft Tissue Sarcomas ◽  
Synovial Cells ◽  
Rare Presentation

Synovial sarcoma unlike its name is not originating from synovial cells. It accounts for approximately 10% of all soft tissue sarcomas with main predilection for extremities.We present here a case of synovial sarcoma of subcutaneous origin of knee joint which is rarest of presentations and early diagnosis is associated with lower risk of metastasis and hence better prognosis.

Diphtheria: the patch remains

2003 ◽  
Vol 117 (10) ◽  
pp. 807-810 ◽  
Author(s):  
Raj Nandi ◽  
Mriganka De ◽  
Simon Browning ◽  
Prabhati Purkayastha ◽  
A. K. Bhattacharjee
Keyword(s):  
Early Diagnosis ◽  
Respiratory Tract ◽  
Respiratory Distress ◽  
Retrospective Analysis ◽  
Fatal Disease ◽  
Disease Characteristics ◽  
Intravenous Antibiotics ◽  
Number Of Patients ◽  
History Of ◽  
Clinical Records

This study analysed the number of patients admitted with diphtheria to a teaching hospital in the state of Assam in India over a period of five years and compared the disease characteristics and management with outcomes and incidences of diphtheria reported in the literature. It was a retrospective analysis of data elicited from clinical records of patients admitted to hospital.A total of 101 admissions were recorded during a five-year period between March 1997 to March 2002, mostly with pharyngeal diphtheria (90 per cent). The majority of patients had no history of immunization (70 per cent). Significant presenting features were a tonsillar patch, sore throat, respiratory distress and fever. All patients were treated with anti-diphtheritic serum and intravenous antibiotics. Steroids were given to 81 per cent of patients and tracheostomy was carried out in 10 per cent of cases. The mortality was 16 per cent.Diphtheria of the respiratory tract remains a potentially fatal disease commonly presenting with membranous pharyngitis. Early diagnosis and treatment with anti-diphtheritic serum and antibiotics remain the cornerstone of treatment. Inadequate immunization cover is deemed responsible for the continued menace of diphtheria.

Imperforate Anus, Malrotation and Hirschsprung's Disease: A Rare Association

1995 ◽  
Vol 5 (03) ◽  
pp. 187-189 ◽  
Author(s):  
D. Poenaru ◽  
J. Uroz-Tristán ◽  
Suzanne Leclerc ◽  
S. Murphy ◽  
A. Bensoussan
Keyword(s):  
Imperforate Anus ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Rare Association

Hirschsprung’s disease associated with imperforate anus

1972 ◽  
Vol 39 (9) ◽  
pp. 297-299
Author(s):  
S. K. Bandi ◽  
J. Radhakrishnan ◽  
V. K. Agrawal
Keyword(s):  
Imperforate Anus ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease

scholarly journals Pneumopericardium

2014 ◽  
Vol 34 (2) ◽  
pp. 163-165 ◽  
Author(s):  
Meen Raj Pathak ◽  
Disuja Shakya
Keyword(s):  
Chest Pain ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Subcutaneous Emphysema ◽  
Distress Syndrome ◽  
Paediatric Population ◽  
Male Child ◽  
Pericardial Cavity ◽  
Life Threatening ◽  
Tension Pneumopericardium

Pneumopericardium may be defined as the presence of air within pericardial cavity which results due to spontaneous or iatrogenic cause. It is rare but life threatening entity, commonly caused by respiratory distress syndrome and vigorous resuscitation, in the paediatric population. Although, pneumopericardium is often asymptomatic, it may cause chest pain, dyspnoea and subcutaneous emphysema. The course of pneumopericardium is usually benign and self-limited. Treatment is crucial in tension pneumopericardium, a complication of pneumopericardium. Here, we report a case of pneumopericardium in a nine month old male child after vigorous resuscitation and intubation for respiratory distress syndrome. DOI: http://dx.doi.org/10.3126/jnps.v34i2.11152 J Nepal Paediatr Soc 2014;34(2):163-165

Early diagnosis of adult respiratory distress syndrome

1988 ◽  
Vol 3 (3) ◽  
pp. 15-20 ◽  
Author(s):  
Pier Paolo Giomarelli ◽  
Osvaldo Chiara ◽  
Emma Borrelli ◽  
Sandra Betti ◽  
Luca Volterrani ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Adult Respiratory Distress Syndrome ◽  
Distress Syndrome
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