IJCR (2020), Volume 4

  • Phosphate Enema Causing Life-Threatening Rectal Perforation

    We report a near fatal rectal perforation due to a phosphate enema in an elderly male. The presentation in septic shock within 4 hours of the enema is quite rare. Early recognition and prompt management are essential for a good outcome. A defunctioning colostomy is standard for these cases but we recommend a distal rectal washout since intraluminal faeces in a loaded rectum could be a cause of ongoing sepsis. Although enemas are commonly used for constipation in the elderly, suppositories and oral preparations should be used preferentially where appropriate.

  • Methemoglobinemia – A review and recommendation for management – Acute methemoglobinemia with hemolytic anemia following suicidal use of aniline based substance

    Methemoglobinemia is a rare disease classification related with congenital or acquired (usually iatrogenic) hemoglobin oxygenation disorder. Despite the fact that number of potentially methemoglobin forming agents is very long, methemoglobinemia is still a case-report of patients admitting to the Emergency Departments. The patient was brought after consuming resin hardener for suicidal purposes from the Center of lower reference to the hospital Emergency Department with suspected burns of the gastrointestinal tract. The patient presented cyanosis, dyspnoea and brown-colored urine on admission.

  • Unexplained Harmony; Tuberculosis and Sarcoidosis

    Sarcoidosis and tuberculosis are chronic granulomatous diseases with predominant pulmonary involvement. Simultaneous occurrence of sarcoidosis and tuberculosis is a rarely encountered clinical entity. We present two Sri Lankan males with coexisting bacteriologically confirmed tuberculosis and histologically diagnosed sarcoidosis. Careful and timely commencement of anti-tuberculous treatment followed by steroids treatment for sarcoidosis lead to improvement of both conditions. These cases are reported to describe the dilemmas in diagnosis and management of this underrecognized clinical entity.

  • Classic Neuroimaging Features in a Case of Congenital Muscular Dystrophy [Fukuyama Variant] – a Rare Cause of Infantile Hypotonia in an Indian Male

    The aetiological diagnosis in an infant with hypotonia is a challenging task for a clinician due to variable and long list of differentials [1]. It could be due to an insult within the central nervous system (CNS) or less commonly result from a peripheral defect at neuro-muscular level and other miscellaneous causes (rickets, hypothyroidism) [2]. Most commonly it is a central hypotonia where the muscular weakness is absent or not profound. In Indian scenario, it is mostly idiopathic central hypotonia, followed by HIE (cerebral palsy) [2]. In cases of cerebral palsy, neuro-imaging reveals the severity of affliction. The peripheral aetiologies like congenital myopathies, congenital myasthenia, infantile botulism etc. are rather rare occurrences. Infants with congenital muscular dystrophy have muscular dystrophy, central neural affliction and involvement of multiple systems (skeletal, cardiovascular, respiratory, ocular etc.). It is a rare disease with studies in Italian population showing point prevalence of 0.563 per 100,000 total population [3]. Unlike HIE, the affliction in CMD is multi-system and it is an inherited disease with variable penetration, the distinction between the two is important to a clinician for the management. CMDs generally have early fatal outcome. So, early diagnosis is important for prognostication, supportive treatment and genetic counselling. The neuro-imaging findings of CMD clearly stand out from the rest aetiologies and can guide a clinician to go in early , for an invasive test like muscle biopsy which is the gold standard diagnostic test .

  • Surgical difficulties with a giant carcinoid in the anterior mediastinum

    Atypical carcinoid in the anterior mediastinum is a rare neoplasm. In our case the huge mediastinal carcinoid was treated with surgery using a median sternotomy and clamshell incision because of the extension of the tumor. We describe our difficulties under the surgery and take a look at the literature.

  • A rare case of Hepatic Sinusoidal obstruction syndrome due to a drug use

    Here, we report a case of hepatic sinusoidal obstruction syndrome(HSOS) of a 30 years old female patient with Ulcerative colitis(UC) who was being treated by mesalazine. The patient was admitted to the emergency unit by harsh and cramping abdominal pain, she had increased AST-ALT-Bilirubine and GGT levels in the blood laboratory analysis. In the Portal venous Doppler US; Splenomegaly and coarse granular appearance in liver parenchymal echogenecity were observed. In the abdominal CT, Splenomegaly was confirmed. In the Dynamic Abdominal MRI, pathognomonic liver finding which was the patchy contrast-enhancing reticular appearance, was visualized and the exact diagnosis was handled by true-cut biopsy. The aid of Dynamic Abdominal MRI to the early diagnosis of HSOS was also demonstrated in this case.

  • 15q11.2 Deletion Syndrome: Expanding the Phenotype

    Background: Although multiple reports exist in the literature of patients with 15q11.2 deletion syndrome, the variability of the phenotype has made clinical delineation difficult. Neuro-developmental scores have not been previously reported. We present clinical findings in a group of 16 patients referred to our center for evaluation and management of neurodevelopmental difficulties. Methods: All patients were seen in our center between 2005 and 2016. They were seen by a clinical geneticist and their diagnosis of 15q11.2 deletion syndrome was confirmed by a microarray analysis. Bayley Scales of Infant Development was done and provided a mental developmental index and a motor developmental index. The data collected was then compared to previous reports in the literature of patients with 15q11.2 deletion syndrome. Results: The reviewed group consisted of 10 males and 6 female patients between the ages of 3 and 15 years. The most common clinical findings included developmental delay (94%), hypotonia (88%), ADHD (75%), anxiety (50%), feeding difficulties (44%), autism (31%), dolichocephaly (25%), 2-3 toe syndactyly (19%), seizure activity (19%), and congenital heart disease (13%). Additional findings included prominence of the metopic suture, epicanthal folds, micrognathia, ankle torsion, incontinence, and sleeping difficulties. Our developmental evaluation by the Bayley Scales of Infant Development indicated an average Mental Developmental Index of 75 (NL = >85) and Motor Developmental Index of 75 (NL = >85) in the patients less than 3 years old. Close to 43% of patients had an occipitofrontal circumference (OFC) greater than or equal to the 97th. Conclusion: The data provided here intends to expand the phenotype of the 15q11.2 deletion syndrome. Neurodevelopmental scores have not been previously reported in 15q11.2 del syndrome which were found to be in the mild developmental delay range.

  • A severe case of toxic epidermal necrolysis which started with agep-like features: Does a new clinical type of drug eruption?

    Acute generalized exanthematous pustulosis (AGEP) and toxic epidermal necrolysis (TEN) are adverse cutaneous reactions. Despite the fact that these 2 cutaneous reactions differ in presentation, prognosis, pathologic features, and treatment, overlap can exist between them, creating a diagnostic challenge. It has rarely been reported that AGEP overlaps or mimics TEN, while TEN which starting by multıple pustules like AGEP has not been reported. The present study reports a rare case of a 14-year-old male patient with the clinical manifestations of multiple purulent bullae caused by amoxycillin ingestion. On 3. day dermatological examination revealed flaccid bullae and epidermal splitting with positive Nikolsky’s sign on right pectoral area, erosions on oral and anogenital mucosa. Histopathologic examination showed a massive inflammatory infiltration and epidermal necrosis indicated Steven Johnson syndrome. Later on added systemic symptoms with haemodynamic, respiratory imbalance and the patient was exitus. The case is discussed to reveal whether a new clinical pattern of drug eruption has been identified. We describe a patient with TEN who presented initially with clinical features of acute generalized exanthematous pustulosis (AGEP). To the best of our knowledge, one report drug eruption with purulent bulla and epidermal necrolysis has previously been documented, and therefore the present study is the second case report of its kind. Because the initial presentation of such adverse drug reactions may vary, diagnosis is difficult and dermatologists must careful the possibility of mimics among adverse cutaneous reactions.

  • COVID-19 infection In Beta Thalassemia Major: Case series

    COVID-19 infection was first described in Wuhan, China after an increasing spread of atypical pneumonia of unknown pathogen. Unfortunately, this novel virus continues spreading causing a pandemic. Thalassemia considered one of the most common hemoglobinopathies. Beta thalassemia is the commonest type with a variety in clinical picture due to the deference in homozygous. A lot of vulnerable categories were at high risk of getting infected with the coronavirus and more even its complication. Despite the conflicting data and ongoing research on this topic, thalassemia patients were categorized among the high-risk population. Here we present a case series describing the clinical progression of two splenectomised patients who has transfusion dependent beta thalassemia major.

  • Recurrent Post-Cardioversion Takotsubo Syndrome

    Takotsubo syndrome (TTS) is characterised by transient regional wall motion abnormalities of the left or right ventricles often associated with new ECG changes (including ST-segment elevations, ST-segment depressions, T-wave inversions and QTc prolongation) in the absence of a culprit atherosclerotic artery which could explain the ventricular dysfunction. In this article we present an unusual case of recurrent TTS following electrical cardioversion in a 61 year old female patient who was admitted to our unit.