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11β Hydroxylase Deficiency in a Child with Hypothyroidism: A Case Report
(Nepal Medical Association, 2023) Shah, Bipesh Kumar; Koirala, Richa; Dhamala, Sumit; Bhatta, Mukesh; Khatiwada, Shekhar
Abstract Congenital adrenal hyperplasia occurs due to enzymatic defects in the adrenocortical steroidogenesis. 11β hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia which presents with hypertension and features of androgen excess. Hypertension has also been found to cause end-organ damage in children with 11β hydroxylase deficiency. We report a case of a 10-year-old male child with hypothyroidism under thyroid replacement therapy, presenting with features of severe hypertension and androgen excess, later on, diagnosed as congenital adrenal hyperplasia due to 11β hydroxylase deficiency.
64-Slice CT Scan in Kathmandu Medical College Teaching Hospital
(Kathmandu University, 2008) Karki, DB; Neopane, A; Regmi, S; Acharya, S
Abstract 64-slice CT scan is a versatile newly introduced imaging technology, which is capable of diagnosing various diseases from head to toe. The 64-slice CT coronary angiography has a negative predictive value of 100%. Virtual images of bronchi, stomach and colon can provide definite diagnosis. Coronary artery calcification score which predicts coronary artery disease can be calculated by 64-slice CT scan. Key words: coronary angiography, coronary calcification
A ‘Missed’ Diagnosed Case of Christ-Siemens-Touraine Syndrome
(Nepal Paediatric Society (JNPS), 2017) Narayan, Shambhavi
Abstract: Christ-Siemens-Touraine syndrome also known as Anhidrotic ectodermal dysplasia, is a rare genetic disorder, occurring in 1-100,000 live male births. A two year old male child with classical signs and symptoms of the disease, affecting skin, hairs, nails and teeth, misdiagnosed initially as a case of seborrhic dermatitis, and later as tuberculosis, is described here. Treatment includes counselling the family, skin care, avoiding high ambient temperature, and prosthodontic measures. Diagnosis as early as possible, based mainly on clinical features can prevent mortality due to hyperpyrexia and respiratory infections. Beyond early childhood, life expectancy is normal to slightly reduced.
A Baby Born with Ectopia Cordis, Omphalocele, Cleft Lips and Palate: A Case Report
(Nepal Medical Association, 2022) Shrestha, Nischal
Abstract: Ectopia cordis is a rare congenital defect with the prevalence of 5 to 8 per million live births. Here we report a rare case of preterm female live birth with ectopia cordis associated with omphalocele, cleft lip, and palate. In this case, 14+ weeks ultrasound did not show any fetal abnormalities and parents were unaware of the condition until 35+ weeks when ultrasound detected the anomaly a few days before delivery. After delivery, they didn’t give consent for further intervention which led to neonatal mortality 3 hours after birth. If the condition was diagnosed in time, an earlier intervention could have been done.
A brief narrative on work-related asthma (WRA)
(Nepalese Respiratory Society, 2022) Piryani, Rano Mal; Piryani, Suneel; Sijapati, Milesh Jung
Abstract: Work related asthma (WRA) is caused by exposure at work known as occupational asthma (OA) or exacerbated or aggravated by exposure at workplace known as work-exacerbated asthma (WEA) or work-aggravated asthma (WAA). Worldwide, WRA remains under detected and undermanaged. Failure to detect or treat WRA leads to increased healthcare cost, morbidity and mortality. The diagnostic work-up includes clinical history and detailed occupational history, assessment of the causative agent and the objective measurements. Del Roio LC et al (2020) have developed algorithm for the diagnosis of WRA with three primary diagnostic criteria and five additional criteria. Better knowledge and understanding of clinicians and other healthcare providers about WRA is vital for early consideration of WRA diagnosis among adult patients with asthma. While Optimum awareness of general public about WRA may possibly help in initiating discussion by affected workers with their healthcare service providers. The primary prevention includes reducing the burden of WRA by evading the use of potential sensitizers and restricting their exposure and limiting to workplace asthma triggers when their use cannot be avoided.
A Case of ALERD Masquerading as Paracetamol Poisoning
(Nepal Paediatric Society (JNPS), 2020) Kalyanshettar, Siddarameshwar S; Patil, Shankargouda V; VJ, Prakash; Mahaldar, Asif; Teggi, Prashant
Abstract: ALERD (Acute leukoencephalopathy with restricted diffusion) is a clinico – radiological diagnosis. Many novel causes of acute encephalopathy are emerging in children. MRI plays an important role in the diagnosis and management of such children. Many infectious and non-infectious conditions and poisonings are known to precipitate acute leukoencephalopathy. A commonly used drug like paracetamol ingested in large quantities is known to cause varied effects. We describe one such child who presented to us with paracetamol poisoning and developed acute leukoencephalopathy. He was later found to have restricted diffusion on magnetic resonance imaging.
A Case of Colo-Colic Intussusception Revealing a Constitutional Mismatch Repair Deficiency Authors
(Perinatal Society of Nepal (PESON), 2025) Mansuy, Ludovic; Destinval, Christelle; Lemelle, Jean-Louis; Chastagner, Pascal
Abstract: A 15-year-old boy presented with asthenia, dyspnea, and dizziness. On examination, he had many café-au-lait spots. The blood tests revealed an iron deficiency anemia at 28 g/l. A CT scan demonstrated a right colo-colonic intussusception. A laparoscopic right hemicolectomy was performed. Histology confirmed the existence of a colonic adenocarcinoma in situ and several other polyps as part of a Constitutional Mismatch Repair Deficiency Syndrome.
A Case of Dirty Dermatosis (Dermatitis Neglecta)
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2022) Henry, Daniel; Henry, David
Abstract: Dermatitis Neglecta, also known dermatosis neglecta refers to a dermatological condition that occurs from lack of hygiene. It is a condition that results from insufficient frictional cleansing leading to accumulation of corneocytes sebum and sweat eventually resulting in hyperpigmented patch or verrucous plaque. Regular bathing is very important for keeping the skin clean. Bathing and scrubbing the skin helps to remove germs, oils, and dead skin cells. Lack of bathing for a long time can also cause Dermatitis Neglecta. We are presenting a case of 22 years old boy who had itching in the scrotum for 4 years and he was being treated for scabies and tinea cruris by various practitioners. On observation we found it to be covered with dark coloured raised lesions, after we rubbed it with cotton and spirit, we found it to be Dermatitis Neglecta of scrotum. Terra firma forme dermatosis is differentiated from it by presence of sufficient hygiene, absence of corn flake-like brownish scales and successful annihilation of pigmentation with isopropyl alcohol in the former and effective clearance of lesions with soap and water in the latter. However, isopropyl alcohol is operative in both disorders.
A Case of Henoch-Schonlein Purpura Nephritis in a Limited Resource Setting
(Nepal Paediatric Society (JNPS), 2021) Sirait, Agaprita Eunike
Abstract Henoch-Schonlein Purpura (HSP) is the commonest vasculitis in children, and the outcome depends on renal involvement or occurrence of HSP nephritis (HSPN). Hence, a meticulous diagnosis, treatment and regular follow-up plan is needed for a better prognosis. A case of 12 - year - old girl showing HSPN symptoms only eight weeks after the first onset of HSP is reported. Symptoms of HSPN might appear later, hence emphasising the importance of close monitoring in a patient of HSP. There is a lack of clear consensus about the management of HSPN until now, and it becomes a challenge especially in a limited resource setting like ours. In our case, the patient was treated with corticosteroids.
A Case of Hereditary Pancreatitis Presenting as Recurrent Abdominal Pain in a 11 Year Old Girl
(Nepal Paediatric Society (JNPS), 2015) Das, A; Basu, M
Abstract: Recurrent abdominal pain is a common problem among children. Since its first description by John Apley in 1958, the condition has remained poorly understood with a multitude of factors being implicated in causation. The symptoms tend to be vague and investigations seldom show organic disease. But the importance to evaluate each child with recurrent abdominal pain should be considered important nevertheless, particularly, in protracted cases. Here, we present a case who presented with history of recurrent abdominal pain for several years before being diagnosed as a case of hereditary pancreatitis. This stresses the importance of evaluating each case with a detailed and complete history, physical examination and selected investigations.
A Case of Hodgkin Lymphoma Presenting as Nephrotic Syndrome
(Nepal Paediatric Society (JNPS), 2016) Dakhane, Yogesh Rambhau; Singh, Rajesh Kumar; Thapar, Rajeev Kumar
Abstract: Nephrotic changes as part of the paraneoplastic syndrome are rare in lymphoid malignancies. One percent of cases of Hodgkin's Lymphoma cases may present with nephritic syndrome. We are reporting a case which initially presented as nephritic syndrome and later was diagnosed to have of Hodgkin's Lymphoma and managed accordingly.
A case of Hypomyopathic Dermatomyositis which subsequently developed to overt Myositis with ILD
(Nepalese Respiratory Society, 2022) Sharma, Prayush; Datta, Abhijit; Hossain, Mohammed Zakir
Abstract: Dermatomyositis (DM) is an inflammatory myositis. Clinically amyopathic dermatomyositis (CADM) and hypomyopathic dermatomyositis (HDM) are rare forms of DM in which skin manifestations are present with no and minimal clinical and laboratory evidence of myositis respectively. A common complication of CADM/HDM is interstitial lung disease (ILD), with the most common histopathologic variant of non-specific interstitial pneumonia (NSIP). This case highlights the development of ILD and severe muscle weakness, including proximal limb muscles, muscles of respiration and muscles of deglutition in a patient with previous diagnosis of hypomyopathic dermatomyositis.
A Case of Juvenile Polyposis Syndrome in a 13-year-old: A Case Report
(Nepal Medical Association, 2023) Bhandari, Abashesh; Basnet, Bhupendra Kumar; Chaudhary, Ashlesha; Chaudhary, Aashutosh
Abstract Juvenile polyposis syndrome is an autosomal dominant syndrome characterised by hamartomatous polyps in the gastrointestinal tract and has a high risk for colon carcinoma. This case explores the presentation of multiple polyps throughout the gastrointestinal tract, located in the stomach, proximal duodenum, colon, rectum and up to the anal canal. The locations and number of these polyps themselves were not typical and the histopathological studies suggested the condition to be an inflammatory fibroid polyp, which is a rare, benign and solitary neoplasm. Prompt and accurate diagnostic modality remains the keystone in the identification and management of such condition which was a limitation in this case as the patient was lost to follow up before a definitive diagnosis was made.
A case of left atrial myxoma: Anaesthetic management
(Kathmandu University, 2006) Pradhan, B; Acharya, SP
Left Atrial Myxomas are notorious for their varied presentations. We describe one such case which initially presented with hemiparesis and seizures and was diagnosed as cerebral infarction and treated accordingly and decompression craniotomy with hinge flap was done for raised ICP and impending brain herniation. The main cause was a left atrial myxoma, which was diagnosed only in follow up. The myxoma has embolised to give rise to cerebral infarction. The LA myxoma was then successfully operated under general anaesthesia and Cardiopulmonary bypass (CPB). Key words: Hemiparesis, Cerebral infarction, Left Atrial (LA) Myxoma
A Case of Precocious Puberty in a Setting with Limited Resources
(Kathmandu University, 2011) Paudel, KP; Giri, S; Shrestha, PS; Shrestha, L; Thapa, SB; Shrestha, M
ABSTRACT Precocious puberty is a rare condition characterized by the development of secondary sexual characteristics before the median age for the sex. It is either gonadotropin dependent also called as central or gonadotropin independent also known as peripheral type. Hypothalamamic Hamartoma is a common cause of the central or precocious puberty due to organic brain lesion. Here we present a two year male who presented us with precocious puberty due to a hypothalamic Hamartoma. KEY WORDS hypothalamic hamartoma, precociuos puberty
A Case of Rare Choroidal Tumor, Choroidal Osteoma
(Kathmandu University, 2017) Shah, RK; Byanju, R
ABSTRACT Choroidal osteoma is a rare benign tumor of unknown etiology, commonly found in young asymptomatic females in their second or third decade of life. It typically appears as an orange-yellow to yellow-white lesion in juxtapapillary region which can extend over to involve macula. Lesion solely located in macular region is less common. Diagnosis is based on fundoscopic appearance and findings of ancillary tests like B scan ultrasonography, optical coherence tomography (OCT), fundus fluorescein angiography (FFA) and computerized tomography (CT) scan. We report a case of unilateral macular choroidal osteoma in a fifteen-year-old girl with normal vision. KEY WORDS Benign tumor, Choroidal osteoma, Macula
A Case of Refractory Idiopathic Tumoral Calcinosis Cutis
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2016) Siddiqui, S.; Ahmed, G.; Qaisar, H.; Wahid, Z.; Talat, H.
Abstract: A case of idiopathic tumoral calcinosis cutis in a normocalcemic patient. The lesions were localized to multiple large and small joints throughout the body and confirmed on biopsy. The lesions are refractory to intralesional steroids, aluminum hydroxide and diltiazem after 5 months. The patient is being considered for surgical intervention for large lesions while he will be further tried on dialitiazem for the smaller ones. Keywords: Calcinosis Cutis, Tumoral, Refractory, Diltiazem
A Case of Restricted Disclosure Due to Anticipatory Stigma and Shame In An 11year Old Survivor of Sexual Assault
(Nepal Paediatric Society (JNPS), 2022) Anyanwu, Onyinye Uchenna; Uro-Chukwu, Henry Chukwuemeka; Obuna, Johnson
Abstract: Sexual violence a common form of GBV may often be hidden by survivors for reasons such as, shame, and anticipatory stigma. Myths, can make certain acts of sexual violence appear acceptable than peno-vaginal penetration. The effect of non or restricted disclosure is that clients may not receive complete care from the existing health systems. We report a case of restricted disclosure resulting from anticipatory stigma by a girl child who was sexually assaulted by a male neighbor.
A Case of Squamous Cell Carcinoma of Skin Subsequent to Subcutaneous Foreign Body
(Society of Dermatologists, Venereologists and Leprologists of Nepal (SODVELON), 2014) Anwar, P; Mubashir, S; Hassa, I; Arif, T
Abstract: Squamous cell carcinoma (SCC) of the skin is one of the most common non melanoma skin cancers (NMSC), along with basal cell carcinoma (BCC). Besides ultraviolet radiation, the role of exposure to industrial agents, ionizing radiation and areas of chronic inflammation is associated with the development of SCC. SCC may also be associated with foreign bodies. We report a rare case of cutaneous SCC in an elderly Kashmiri female, developing subsequent to subcutaneous non metallic foreign body, which was successfully excised with negative margins, and transposition flap closure. Keywords: Squamous cell carcinoma, Foreign body, Transposition flap closure
A case of Synchronous Malignancy of Stomach and Kidney
(Kathmandu university, 2013) Aslam, S SM; Sridhar, H; Rao, MY
ABSTRACT The synchronous occurrence of primary renal cell carcinoma with gastric cancer is very rare. We report a case of 41 year old male who presented on 05/07/2011 to M S Ramaiah hospital, Bangalore with history of fever, pain abdomen and malena. Ultrasound abdomen and pelvis showed large heterogenous mass arising from the upper pole of left kidney. Computed tomography of the abdomen showed left renal cell carcinoma. Renal biopsy showed features consistent with renal cell carcinoma – clear cell type. Oesophagogastroduodenoscopy revealed gastric polypoidal growth. Gastric biopsy from the growth revealed poorly differentiated adenocarcinoma of stomach. We report this case to highlight a rare occurrence of synchronous malignancy of stomach and kidney. KEYWORDS Gastric adenocarcinoma, gastric cancer, renal cell carcinoma, synchronous malignancy