Dilemma in diagnosing Metabolic Disorder: A case of Galactokinase Deficiency with an unusual presentation

An infant with metabolic disorder can have vague presentations like repeated chest infections, feeding intolerance and failure to thrive. This may lead to a diagnostic dilemma. Detailed clinical history together with biochemical investigations are must to reach a diagnosis. Galactokinase Deficiency (GKD) has a varied presentation with some features like microcephaly, juvenile cataracts and failure to thrive. We encountered a case of GKD in an infant in which there was an absence of cataracts. Raised Immunoreactive Trypsinogen (IRT) in Newborn Screening was strongly suggestive of Cystic Fibrosis (CF), however Genetic Analysis revealed a heterozygous missense variation in EXON4 of the GALK1 GENE, confirming the diagnosis of GKD. Hence, this case highlights the importance of considering different metabolic disorders as differential diagnoses of one another even in absence of a typical feature of a particular disorder.

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A study of clinicopathologic spectrum of vesicobullous disorders

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20173203 ◽

2017 ◽

Vol 3 (3) ◽

pp. 355

Author(s):

Heena Mittal ◽

Sukhjot Kaur ◽

Bhavna Garg ◽

Neena Sood ◽

Sunil Kumar Gupta ◽

...

Keyword(s):

Pemphigus Vulgaris ◽

Clinical History ◽

Final Diagnosis ◽

Stevens Johnson Syndrome ◽

Direct Immunofluorescence ◽

Diagnostic Dilemma ◽

Dermoepidermal Junction ◽

Female Ratio ◽

Male Female Ratio ◽

Detailed Clinical History

Background: Blistering diseases are alarming skin conditions. Autoimmune blistering diseases are a group of bullous disorders characterized by pathogenic antibodies directed at the target antigens in the epidermis or dermoepidermal junction.The objectives were to study the spectrum of histopathological changes by light microscopy, to evaluate the pattern of direct immunofluorescence (DIF) and to correlate clinical, histopathological features and DIF findings of vesiculobullous lesions of the skin or/and mucosa.Methods: The present study was carried out on 110 skin and/or mucosal biopsies with vesicobullous disorders from July 2013 to June 2016. Detailed clinical history, morphology of lesions, site of involvement and other findings were recorded as per proforma. These cases were analysed clinically, histopathologically and on immunofluorescence.Results: Majority of the patients presented in the age group of 41-50 years (30.9%). The male: female ratio was 1:1.15. Pemphigus vulgaris was the most common vesiculobullous disorder constituting 48.2%, followed by Bullous Pemphigoid constituting 27.3%. Dermatitis herpetiformis constituted 8.3%; Pemphigus foliaceous 3.6%, varicella and Stevens Johnson Syndrome both were observed in 2.7% each. DIF was performed in 81 cases out of which only 72 cases (92.6%) showed positivity. Conclusions: DIF is a sensitive tool for distinguishing immune mediated bullous diseases from other vesiculobullous disorders especially in cases which pose a diagnostic dilemma both clinically and histologically. The final diagnosis depends on correlation of clinical, histopathological and immunoflourescence findings.

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Prevalence of Metabolic Disorder in Adolescent Residing in Al-dawadmi and Shaqra Regions of Saudi Arabia

Journal of Advances in Medical and Pharmaceutical Sciences ◽

10.9734/jamps/2019/v20i130100 ◽

2019 ◽

pp. 1-5

Author(s):

Ghaith Saleh Suliman Alabdullatif ◽

Hallal Badi Hallal Alotaibi ◽

Sanjay Kumar Deshwali ◽

Mohammad Arshad

Keyword(s):

Risk Factors ◽

Vitamin D ◽

Saudi Arabia ◽

Vitamin D Deficiency ◽

Cardiac Disease ◽

Metabolic Disorder ◽

Metabolic Disorders ◽

Clinical History ◽

Relationship Of ◽

The Relationship

The recent study was aimed to estimate the prevalence and develop the relationship of the clinical history like diabetes, cardiac disease and vitamin D deficiency and obesity and their impact on metabolic disorders for adolescent residing near Dawadmi and Shaqra region. Two hundred samples (142 Females & 58 Males) were utilized in the study with an age ranging 13-20 and distributed the questionnaire to record the responses. The results exhibited that 38% subjects responded positively for clinical history with cardiac disease, while 70.5 and 47% responded positively for the clinical history with diabetes and vitamin D deficiency. The clinical history with diabetes, cardiac disease and vitamin D deficiency was observed the major risk factors acting in descending order diabetes-cardiac disease-vitamin D deficiency.

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Wolman’s disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review

BMC Pediatrics ◽

10.1186/s12887-021-02541-2 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Fahad Alabbas ◽

Ghaleb Elyamany ◽

Talal Alanzi ◽

Tahani Bin Ali ◽

Fatma Albatniji ◽

...

Keyword(s):

Hemophagocytic Lymphohistiocytosis ◽

Metabolic Disorder ◽

Clinical Signs ◽

Failure To Thrive ◽

Severe Infection ◽

Signs And Symptoms ◽

Immune Deficiency Syndrome ◽

Autoimmune Disorder ◽

Deficiency Syndrome ◽

Homozygous Deletion

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare and potentially fatal syndrome that is characterized by strong activation of the immune system from hyperinflammatory cytokines. Symptoms of HLH patients include fever, hepatosplenomegaly, cytopenia, and hyperferritinemia. Inherited HLH is classified as primary, whereas secondary HLH (sHLH) occurs when acquired from non-inherited reasons that include severe infection, immune deficiency syndrome, autoimmune disorder, neoplasm, and metabolic disorder. Wolman’s disease (WD) is a rare and fatal infantile metabolic disorder caused by lysosomal acid lipase deficiency, that exhibits similar clinical signs and symptoms as HLH. This paper reports the case of an infant diagnosed with WD and who presented with sHLH. Case presentation A 4-month-old infant presenting with hepatosplenomegaly, failure to thrive, and other abnormalities. WD diagnosis was confirmed by the presence of the LIPA gene homozygous deletion c.(428 + 1_967-1)_(*1_?)del. The infant also met the HLH-2004 diagnostic criteria. Conclusions Metabolic disorder such as WD should be investigated in infants fulfilling the HLH criteria to diagnose the underlying condition. More studies are needed to understand the link between WD and sHLH and to identify appropriate therapies.

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A Five Years Old Child with Failure To Thrive and Vomiting Presenting as a Diagnostic Dilemma: A Case Report

Journal of Nepal Medical Association ◽

10.31729/jnma.5134 ◽

2020 ◽

Vol 58 (228) ◽

Author(s):

Anita Lamichhane ◽

Rupesh Sharma ◽

Ramana Rajkarnikar ◽

Rubee Awale ◽

Prapti Shrestha ◽

...

Keyword(s):

Failure To Thrive ◽

Exploratory Laparotomy ◽

Age Group ◽

Older Children ◽

Diagnostic Challenge ◽

High Resolution Computed Tomography ◽

Diagnostic Dilemma ◽

Recurrent Vomiting ◽

Colicky Pain ◽

Band Failure

Vomiting with failure to thrive in older children is a diagnostic challenge due to the diversity in the diagnosis. We report a case of a five-years-old girl with failure to thrive, history of recurrent vomiting and intermittent colicky pain abdomen since 45 days of life. Intestinal malrotation with Ladd’s band was diagnosed based on clinical acumen, high- resolution computed tomography, barium follow through and intraoperative findings. Exploratory laparotomy with Ladd’s procedure was performed under general anesthesia which showed malrotation at the duodenojejunal junction with a short route of mesentery with floating caecum with Ladd’s band. Failure to thrive with malrotation of the gut in the older age group is rare in itself. As there are very few cases reported in this age group, so we undertook to report this case to increase the awareness of knowledge concerning the diagnosis and timely management to prevent the comorbidity of this condition.

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Study of etiological factors in unilateral maxillary chronic sinusitis

International Journal of Otorhinolaryngology and Head and Neck Surgery ◽

10.18203/issn.2454-5929.ijohns20164806 ◽

2016 ◽

Vol 3 (1) ◽

pp. 88

Author(s):

D. Chandrika ◽

Anantharaju G. S.

Keyword(s):

Maxillary Sinusitis ◽

Clinical History ◽

Causative Factor ◽

Successful Outcome ◽

Dental Infection ◽

Deviated Nasal Septum ◽

Detailed Clinical History ◽

Chronic Maxillary Sinusitis ◽

Symptoms And Signs

Background: Chronic rhinosinusitis is an extremely prevalent disorder which has significant effect on quality of life of affected individual. Varied symptomatology and varied etiology of unilateral chronic maxillary rhinosinusitis requires a comprehensive approach by otorhinolaryngologist. The objectives of the study were to evaluate the causative factor of unilateral chronic maxillary sinusitis and to study clinical presentation of unilateral chronic maxillary sinusitis. Methods: 50 patients with symptoms and signs suggestive of unilateral chronic maxillary sinusitis were evaluated. All were subjected to detailed clinical history, ENT examination including complete orodental examination, diagnostic nasal endoscopy, intra oral peri apical radiographs, CT scan of para nasal sinuses. Results: Of total of 50 patients studied, gross deviated nasal septum (DNS) is commonest cause of chronic unilateral maxillary sinusitis followed by dental infection of upper premolars. Conclusions: This study was carried out with an effort to find out etiology of unilateral chronic maxillary sinusitis as identification of etiology will help in successful outcome of the treatment.

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CLINICAL STUDY OF PAIN IN RIGHT ILIAC FOSSA

International Journal of Medical and Biomedical Studies ◽

10.32553/ijmbs.v4i8.1365 ◽

2020 ◽

Vol 4 (8) ◽

Author(s):

Saurabh Kothari ◽

Manjula Kothari ◽

Shree Mohan Joshi ◽

Kalp Shandilya

Keyword(s):

Iliac Fossa ◽

Signs And Symptoms ◽

Clinical History ◽

X Ray ◽

Pain Abdomen ◽

Detailed Clinical History ◽

Right Iliac Fossa Pain ◽

Chest X Ray ◽

The Right ◽

Appendicular Mass

Background: A mass in the right iliac fossa is a common diagnostic problem encountered in clinical practice, requiring skill in diagnosis. Methods: 100 patients with signs and symptoms of right iliac fossa mass admitted in Hospital were identified and were studied by taking detailed clinical history, physical examination and were subjected to various investigations like x ray erect abdomen, chest x-ray, contrast x-ray . Result: In this study of out of 100 cases, 65.00% of cases were related to appendicular pathology either in the form of appendicular mass or appendicular abscess. There were 12.00% cases of ileocaecal tuberculosis. Conclusion: Appendicular lump remains the most common cause for right iliac fossa pain. Ileocaecal tuberculosis is one of the most important differential diagnoses for pain abdomen. Keywords: Appendicular Mass, Ileocaecal Tuberculosis, Carcinoma Caecum, Right Iliac Fossa Mass.

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Clinical spectrum of facial hypermelanosis: a descriptive study from a tertiary care centre

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20200599 ◽

2020 ◽

Vol 6 (2) ◽

pp. 212

Author(s):

Mohammed Thoyyib ◽

Roshni Menon ◽

Brinda G. David

Keyword(s):

Tertiary Care ◽

Clinical History ◽

Climatic Conditions ◽

Research Centre ◽

Tertiary Care Centre ◽

College Hospital ◽

Pigmentary Disorders ◽

Number Of Patients ◽

The Face ◽

Detailed Clinical History

Background: Facial melanosis (FM) which refers to brown, black or blue pigmentation over the face is a common cosmetic concern in Indian patients. This increased incidence could be due to remarkable diversity of Indian ethinic population. Pigmentary disorders of the face are a great cosmetic and psychological concern for the patients.Methods: This is an extensive descriptive clinico epidemiological study comprising of 1024 patients, conducted at Sri Venkateshwara Medical College Hospital and Research Centre, Puducherry, for a period of one and a half years. A detailed clinical history and examination was done, and all the clinical photographs and data were recorded. Necessary investigations like skin biopsy and patch testing was done wherever required.Results: The maximum number of patients belong to the age group of 21-35 years with a female predominance (67.2%). Among patients of FM, post inflammatory pigmentation (35.3%) was the most common comprising of 362 patients, followed by melasma (17.2%), periorbital melanosis (15.7%), seborrheic melanosis (7.5%) followed by other causes.Conclusions: FM is common in Indian skin, several of which have overlapping features, and some have defined clinical classification. Additionally, climatic conditions, cosmetic usage and social parameters predispose to the increased incidence of FM.

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Gender Differences in Metabolic Disorder Prevalence Among North China Residents: A Cross-sectional Study

10.21203/rs.3.rs-657613/v1 ◽

2021 ◽

Author(s):

Zhihua Hao ◽

Yanhong Ge ◽

Qiuxiao Zhu ◽

Jie Li ◽

Zibo Liu ◽

...

Keyword(s):

Metabolic Disorder ◽

Metabolic Disorders ◽

North China ◽

Cross Sectional Study ◽

Health Concern ◽

Sectional Study ◽

Obese People ◽

Cross Sectional ◽

Family History Of Diabetes ◽

Men And Women

Abstract Background: Numerous studies have found sex disparity in the prevalence of metabolic disorders. However, information is lacking on gender difference among residents of north China and little epidemiological data is available on metabolic disorders in North China. Methods: This cross-sectional study involved 2650 randomly selected adult residents of Hebei province, North China. Demographic, biochemical, and physical examination parameters were collected and compared between men and women. Metabolic disorder prevalence was estimated and their associations with baseline characteristics was analyzed by multivariate logistic regression.Results: Our data suggest that the prevalence of metabolic disorders including metabolic syndrome (MetS), diabetes, prediabetes, hypertension, central obesity, and hypertriglyceridemia are significantly higher in men than in women. We find that aging people, overweight or obese people, urban residents, smokers, people with lower education, manual workers, and people with family history of diabetes are at higher risk of metabolic disorders. However, these associations differ between men and women.Conclusions: Our findings suggest that metabolic disorders are an important public health concern and highlights an urgent need for intervention in middle-aged and elderly populations in North China. There are sex-specific associations between multiple risk factors and metabolic disorders.

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A study on maternal and perinatal outcome in pregnancy with oligohydramnios: study from a tertiary care hospital, Karnataka, India

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20201243 ◽

2020 ◽

Vol 9 (4) ◽

pp. 1676

Author(s):

Shilpa Nabapure ◽

Rashmi P. S. ◽

Prema Prabhudeva

Keyword(s):

Gestational Age ◽

Perinatal Outcome ◽

Tertiary Care ◽

Perinatal Outcomes ◽

Clinical History ◽

Care Hospital ◽

Ultrasound Technique ◽

Doppler Study ◽

Detailed Clinical History ◽

Four Quadrant

Background: Oligohydramnios is described as a condition with decreased amniotic fluid volume relative to gestational age. It is a severe and common complication of pregnancy which is associated with increased maternal morbidity and adverse perinatal outcomes. This study was conducted to find out the significance of oligohydramnios in determining the maternal and perinatal outcome in pregnant women with oligohydramnios.Methods: The present study is a hospital-based study conducted in the department of obstetrics and gynecology, of SSIMS and RC Davanagere, during the period between August 2018 to April 2019. Detailed clinical history was taken, AFI was measured using Phelan’s four quadrant ultrasound technique. All the information was entered in the proforma and analyzed.Results: The mean age group of the study participants was 26.36±4.46 years. Majority (51.9%) of them were primigravida. Gestational age, birth weight and abnormal Doppler study were found to have an association with the perinatal outcome. Perinatal mortality in the present study was 4%.Conclusions: Oligohydramnios is a frequent occurrence in obstetrics and this condition requires intensive surveillance and proper antenatal care.

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Disseminated tuberculosis caused by Mycobacterium bovis presenting as a tongue base mass

BMJ Case Reports ◽

10.1136/bcr-2018-225436 ◽

2018 ◽

pp. bcr-2018-225436

Author(s):

Sarah Pratt ◽

Arthur Henderson ◽

Stuart Gillett

Keyword(s):

Mycobacterium Bovis ◽

Systemic Treatment ◽

Intestinal Tuberculosis ◽

Granulomatous Inflammation ◽

Clinical History ◽

Giant Cells ◽

Right Hemicolectomy ◽

Caseous Necrosis ◽

Detailed Clinical History ◽

Progressive Weight Loss

An 80-year-old woman presented with dysphagia, odynophagia and progressive weight loss. Initial investigations suggested a large base of tongue squamous cell carcinoma. At panendoscopy, biopsies were taken which revealed granulomatous inflammation with multinucleated giant cells and areas of caseous necrosis. Acid-fast bacilli were identified on Ziehl-Neelsen stain and the appearances were consistent with Mycobacterium bovis. Closer inspection of the patient’s medical history revealed that she had previously undergone right hemicolectomy for an ascending colon stricture. The histology had shown granulomatous inflammation consistent with intestinal tuberculosis but no systemic treatment had been instigated at the time. This case highlights the importance of taking a detailed clinical history as well as the need to be cognisant of tuberculosis masquerading as cancer in the head and neck.

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