Typical Clinical Symptoms Research Articles

Successive onset of Vogt-Koyanagi-Harada syndrome in father and son

BackgroundVogt‒Koyanagi‒Harada (VKH) disease is a multifactorial systemic autoimmune disorder against melanocytes that is characterized by panuveitis. Familial occurrence of VKH disease is rare. Here, we report two cases of a father and his son with characteristic manifestations of VKH disease.Case presentationA 53-year-old male with typical clinical symptoms of VKH disease was referred to Tangshan Eye Hospital. Examination showed the presence of ciliochoroidal effusion and exudative retinal detachment in both eyes. The patient was given intravenous methylprednisolone 120 mg for 2 days and intravenous methylprednisolone 80 mg for 1 day followed by 48 mg (1 mg/kg/day) oral methylprednisolone daily, accompanied by oral azathioprine 50 mg daily. Cycloplegic agent (0.5% tropicamide three times daily [TID]) was added. The patient was free of symptoms and recurrence within more than 1-year-follow-up period, the best corrected visual acuity (BVCA) was increased and maintained in both eyes with complete resolution of subretinal fluid. One year and nine months later, case 2 (his son) also presented with the typical clinical symptoms of VKH disease at 29 years of age. The son also recovered from VKH disease after routine and standard treatment.ConclusionsTo the best of our knowledge, this is the first VKH disease case report of a father-son relationship. Although genetic factors have been demonstrated to be involved in the pathogenesis of VKH disease, the different inheritance modes of VKH patients need to be further explored and studied.

Lumpy Skin Disease (LSD): Etiology, Pathogenesis, Prevention and Control

Lumpy skin disease (LSD) is one of the diseases that pose a threat to the livestock industry because it can cause large economic losses. The disease was first discovered in the country of Zambia in 1929. In Indonesia, LSD was first discovered in early 2022 in Indragiri Hulu Regency, Riau. This disease is caused by a virus belonging to the genus Capripoxvirus, subfamily chordopoxvirinae, family Poxviridae. The LSD virus has a limited host and does not infect non-ruminant hosts. A characteristic clinical symptom of LSD is the appearance of nodules on the skin. Diagnosis of this disease can be done by looking at typical clinical symptoms, laboratory tests such as virus isolation, serological tests (serum neutralization test, virus neutralization test (VNT), agar gel immune diffusion, indirect ELISA, and indirect fluorescent antibody technique (IFAT)), real time and conventional PCR, immunohistochemistry, LAMP, and IPMA. Prevention and control of LSD disease can be done in several ways such as vaccination, vector control, restriction of livestock traffic, strict quarantine and stamping out.

Laparoscopic surgery for the diagnosis of abdominal effusion in the modern era of imaging - a retrospective study in a low-to-middle-income country.

We retrospectively identified patients who could not be diagnosed by clinical examination, laboratory investigations, and imaging tests. A total of 103 (55 male and 48 female) patients were selected. The median age of the study group was 54 years (range 38-64 years). Typical clinical symptoms included fever (58.2%), abdominal pain (56.3%), and digestive disorders (62.1%). Fever and digestive disorders were higher in the peritoneal tuberculosis (TB) group than in the metastatic cancer group [(62.1% vs. 12.5%, P=0.009) and (66.3% vs. 12.5%, P=0.004)]. Abdominal pain was more common in the metastatic cancer group than in the other groups (100% vs. 55.8%, P=0.020). Patients in the TB and chronic inflammation groups had lower red blood cell counts and blood albumin (41 vs. 42, P=0.039) than those in the metastatic cancer group, respectively. The rate of intestinal wall thickening on ultrasound and peritoneal thickening on computed tomography was higher in the cancer group than in the benign group (87.5% vs. 7.4%, P=0.000) (75% vs. 23.2%, P=0.005), respectively. There was no difference in the median peritoneal fluid volume between the two groups (390 vs. 340, P=0.058). Pathological results showed 88.3%, 7.8%, and 3.9% of peritoneal TB, metastatic cancer, and chronic inflammatory lesions, respectively. The median hospital stay did not differ between the two groups (4 vs. 3 days, P=0.051). Both groups of patients had no morbidity or mortality. Unidentified ascites and peritonitis must be difficult for making diagnose by conventional methods. Laparoscopy might be supportive of making a rapid diagnosis and starting early treatment.

Common Clinical signs and symptoms observed in Patients diagnosed with Thyrotoxicosis in Gujranwala, Pakistan

Aim: To assess the common clinical sign and symptoms in Patients of Thyrotoxicosis in Gujranwala, Pakistan. This study was conducted at the Civil Hospital and Salamat Hospital & Healthcare Center, Gujranwala from July 2019 to February 2020. Methods: This was a prospective study consisted of 120, male and female patients of different age groups, diagnosed with thyroid gland disorder. The Clinical features and history related to thyroid disorders was taken. Complete thyroid profile was checked in initial screening of Thyrotoxicosis.The bloodscreening for various thyroid hormonal levels,Thyroid imaging for the patients with neck swelling and clinically various thyroid function tests were done by using Radiation Imaging (Radiotracers) techniques. Aninformed consent of all patients was taken before tests and study. The data was recorded on designed Performa. Results: In this study the prevalence of Thyrotoxicosis patients was higher in females (78) than male (42) and majority of patients belonged to 31-50 years of age range. Various typical clinical sign and symptoms of Thyrotoxicosis like Goiter, sweating, heat intolerance, Hoarseness, Tremors, Diarrhoea, anxiety, hair loss, Menstrual irregularities in females, Exophthlmus, increased appetite and poly urea were observed in patients diagnosed with Thyrotoxicosis.While in blood screening, marked mean ±SD of BMI, free T3ng/dL, T4(ng/dL) and TSH(mlU/L) were found in male & female patients (table 2). Conclusion and practical implication: Thyroid casesare found high in our population. This high prevalence rate is affecting the health and quality of life of affected persons. So it is deeply felt that awareness to use dietary iodineand other remedies isa need of hour for our communities to decrease high prevalence of the thyroid dysfunctions and improve health and quality of life of the community. Keywords: Thyrotoxicosis, Radiotracers, Radiation Imaging Technique, Signs and Symptoms, TSH, T3 and T4, Prevalence.

Stevens-Johnson syndrome in breast cancer patient treated with ribociclib

Introduction. Ribociclib is a cyclin-dependent kinase (CDK) inhibitor, widely used in patients with different types of cancer. Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe immunologic skin reactions that lead to epidermal necrolysis followed by exfoliation with life-threatening consequences. Case presentation. We present a case of a patient with metastatic breast cancer with SJS-like skin reaction during treatment with ribociclib and letrozole. The patient presented skin changes, typical clinical symptoms (with Nikolsky sign), and destruction of the epithelium by forming blisters and abscesses on pathological examination. The lesions covered about 30% of the skin surface, and they were scored as grade 4 according to CTCAE v. 5.0. After ribociclib discontinuation and supportive management, a gradual improvement of skin lesions was observed. Conclusion. We present this case as there are only a few case reports on ribociclib-related Stevens-Johnson syndrome in the literature, and clinicians should be aware of the risk of this side effect.

A Case of Subtype Giant Cell Arteritis Without Symptoms of Arteritic Anterior Ischemic Optic Neuropathy

Purpose: We report a case of papilledema without the typical symptoms of arteritic anterior ischemic optic neuropathy, ultimately diagnosed as a subtype of giant cell arteritis, which has not been reported previously in Korea.Case summary: A 72-year-old man visited the hospital with decreased visual acuity in his left eye of 0.02 that had occurred 1 week prior. Optic disc swelling and relative afferent pupillary disorder were also evident in the left eye. Magnetic resonance imaging revealed no specific findings, leading to a diagnosis of anterior ischemic optic neuropathy. Afterwards, there was no improvement in visual acuity, and optic nerve atrophy occurred. Six months later, the patient complained of decreased visual acuity in the contralateral eye; the same clinical findings as in the left eye were confirmed. Temporal artery biopsy was performed, ultimately revealing a subtype of giant cell arteritis.Conclusions: This case was finally diagnosed as a subtype of giant cell arteritis through temporal artery biopsy, despite the absence of typical clinical symptoms of this condition. Although giant cell arteritis is rare in Korea, it can cause permanent blindness. Therefore, the possibility of giant cell arteritis should always be considered with optic disc swelling in both eyes.

A case report about a child with drug-resistant tuberculous meningitis

BackgroundHematogenous disseminated tuberculosis predisposes to concurrent tuberculous meningitis (TBM), the most devastating and disabling form of tuberculosis. However, children often have atypical clinical symptoms, difficulty in specimen collection, low specimen content, and an increasing incidence of drug-resistant tuberculosis. Thus, the accurate diagnosis and timely treatment of childhood tuberculosis face monumental challenges.Case presentationThe 14-year-old female presented to the hospital with intermittent fever, headache, and blurred vision. Her cerebrospinal fluid (CSF) showed a lymphocytic pleocytosis, an elevated protein level, and a decreased chloride level. And her CSF tested positive for TB-RNA. Xpert MTB/RIF detected Mycobacterium tuberculosis in her CSF, but the rifampin resistance test was unknown. Subsequently, her CSF culture was positive for Mycobacterium tuberculosis. The drug sensitivity test (DST) revealed resistance to isoniazid, rifampin, and fluoroquinolones. A computed tomography (CT) of the chest showed diffuse miliary nodules in both lungs. Intracranial enhanced magnetic resonance imaging (MRI) showed “multiple intensified images of the brain parenchyma, cisterns, and part of the meninges.” The final diagnosis is miliary pulmonary tuberculosis and pre-extensive drug-resistant TBM. After 19 months of an oral, individualized antituberculosis treatment, she recovered with no significant neurological sequelae.ConclusionFor patients with miliary pulmonary tuberculosis, especially children, even if there are no typical clinical symptoms, it is necessary to know whether there is TBM and other conditions. Always look for the relevant aetiological basis to clarify whether it is drug-resistant tuberculosis. Only a rapid and accurate diagnosis and timely and effective treatment can improve the prognosis and reduce mortality and disability rates.

Differential clinical signs of aphasia syndrome in acute and residual recovery periods. Directions of neurorehabilitation of patients with aphasia syndrome depending on the recovery period

Background. Speech and cognitive disorders of vascular genesis account for a significant percentage of the existing consequences of local disorders of cerebral circulation. Approximately 2140% of stroke patients suffer from persistent aphasia, which gradually worsens the quality of life and rehabilitation results.
 Aim. Improving the quality of neurorehabilitation of patients who have suffered a brain stroke.
 Materials and methods. The analysis of differential clinical signs of aphasia syndrome in patients of neuro-intensive care and vascular neurological departments was carried out. The typical clinical symptoms of aphasia syndrome characteristic of ICU patients were identified, a rehabilitation direction was proposed that promotes rapid compensation of syndromes in the acute recovery period (up to 88% of cases). The clinical signs of aphasia syndrome at the late, residual recovery stage have been clarified. An effective method of neurorehabilitation of patients with aphasia syndrome in the late recovery period (significant positive dynamics up to 85% of cases) is proposed.
 Results. Achieved high results in the reversibility of the aphasia syndrome, both at an early and late, residual, recovery stage.
 Conslusion. Aphasia syndrome in acute and residual recovery periods has a certain specificity of its clinical manifestation. This factor must be taken into account: 1) when making speech diagnoses; 2) when planning rehabilitation programs. An effective rehabilitation technique for the aphasia syndrome involves a functional reorganization of mental processes, which allows speech thinking to either completely return or get as close as possible to its original state, regardless of the stage of recovery work.

Fontan-associated liver disease current status and transplantation consideration

Fontan-associated liver disease (FALD) is one of the main complications after the Fontan procedure, manifesting mostly as liver fibrosis and even cirrhosis, with a high incidence rate and a lack of typical clinical symptoms that seriously affect patient prognosis. The specific cause is unknown, although it is considered to be associated with long-term elevated central venous pressure, impaired hepatic artery blood flow, and other relevant factors. The absence of association between laboratory tests, imaging data, and the severity of liver fibrosis makes clinical diagnosis and monitoring difficult. A liver biopsy is the gold standard for diagnosing and staging liver fibrosis. The most important risk factor for FALD is time following the Fontan procedure; therefore, it is recommended to do a liver biopsy 10 years after the Fontan procedure and to be cautious for the presence of hepatocellular carcinoma. Combined heart-liver transplantation is a recommended choice with favorable outcomes for patients with Fontan circulatory failure and severe hepatic fibrosis.

Diagnostic work-up, findings, and documentation of multiple sclerosis

Although multiple sclerosis is the most common chronic inflammatory demyelinating disease of the central nervous system, the rate of misdiagnosis in clinical practice is high. This is usually due to the inadequate application of the McDonald criteria and misinterpretation of images. This review focuses on typical clinical symptoms, choice of magnetic resonance imaging (MRI) sequences, correct application of the McDonald criteria, and finally interpretation of the images.

Original research article: Study of effectiveness of homeopathic remedies in treatment of malaria

Background: One of India's biggest public health issues is malaria. Malaria is frequently linked to poverty, but it also contributes to it and hinders economic growth. The risk affects approximately half of the world's population (3.3 billion), making it the sixth largest cause of mortality globally.Objectives: The study's goal was to determine the function of a set of predetermined homoeopathic medications in the treatment of malaria.Methods: Out of 180 assessed cases, 36 individuals in all were enrolled. The research included patients who had the typical clinical signs and symptoms of malaria and had tested positive for the malaria parasite in a blood test. Based on typical malaria symptoms, experimental medications were chosen from the mainstream homoeopathic literature. Using a student t test calculator online, statistical analysis was performed. p value less than 0.05 recognized as a significant.Results: Of 36 individuals who tested positive for malaria, the majority (41.66%) had temperatures over 102°F. Just 8 patients had palpable spleens. (22.22%) In 21 individuals, mild body & muscular aches were detected. (58.33%). 22 individuals had mild fatigue and moderate sweating. (20) and (61.11%), respectively. Thirteen individuals (36%) reported experiencing nausea and vomiting. The mean MSS score at the beginning of the treatment was 12.2±1.6, and at the conclusion it was 6.9±3.4 (p 0.05). ESR value decreased as well and results were statistically significant. According to indications, the most often given medications were arsenic album (n=12, 33.33%)

СИНДРОМ БРУГАДА В КЛИНИЧЕСКОЙ ПРАКТИКЕ

Brugada syndrome is a congenital channelopathy with an autosomal dominant type of inheritance and low penetrance, characterized by the presence of a typical clinical and electrocardiographic symptom complex, including a special form of blockade of the right bundle branch block with ST segment elevation in one or more right chest leads on the electrocardiogram, the absence of organic pathology of the heart and various life-threatening ventricular arrhythmias, which can lead to the development of sudden cardiac death. The article defines the concept of "Brugada's syndrome", the geography and frequency of occurrence of the disease. It is indicated that more than 450 pathogenic variants in 24 genes are involved in the development of Brugada syndrome. The article presents two main hypotheses of pathogenesis, describes the electrocardiographic picture, three types of ECG changes, clinical manifestations and classification of the Brugada syndrome. Listed diseases with which it is necessary to carry out differential diagnosis of Brugada syndrome. Various aspects of the treatment of Brugada syndrome are presented: non-drug methods, pharmacotherapy, installation of an implantable automatic cardioverter-defibrillator, epicardial catheter ablation of abnormal areas of the anterior part of the outflow tract of the right ventricle.

Anti-NMDA receptor encephalitis - the narrative review of literature with particular regard to pediatric population.

In recent years, the frequency of diagnosing autoimmune encephalitis has increased significantly, both in the population of adults and children and adolescents. This fact is undoubtedly related to the dynamic development of new diagnostic methods, as well as the progress of medical knowledge. A particular type of this condition is anti-NMDA receptor encephalitis. Due to the presence of psychiatric symptoms in this disease, psychiatrists are often the first specialists who treat a patient with the above diagnosis. Differential diagnosis is extremely difficult and primarily based on the history and presence of typical clinical symptoms. Therefore, based on a narrative review of the literature on the subject searched by the PubMed, EMBASE, and Cochrane library databases from 2007-2021 with the keywords "anti-NMDAR encephalitis", "children", and "adolescents", the author described the characteristic course of the disease, diagnostic methods used to confirm the diagnosis, and presents current treatment guidelines. Due to high prevalence, anti-NMDA receptor encephalitis is a diagnosis that should be considered in the differential diagnosis in everyday psychiatric practice.

Diabetes mellitus in domestic cats: clinical cases from veterinary practice

The aim: to analyze clinical cases of diabetes mellitus in cats and establish the effectiveness of clinical and laboratory research and treatment of animals with the help of insulin therapy.
 Materials and methods. The material for the study were domestic cats admitted to the veterinary medicine clinic "Doctor Vet" (Lviv).
 Results. Clinical case 1. Cat Bonya, age 10 years, body weight 4 kg. symptoms: polyuria/polydipsia and weight loss. Examination: cachexia, weakness, pale mucous membranes, unsteady gait. Blood glucose - 20.4 mmol/l, urine analysis - pH=6.0, glucose ++++, no ketones detected. Diagnosis: diabetes. For glycemic control - caninsulin at 0.25 IU/kg every 12 hours. After the start of insulin therapy, the animal's condition improved, after 2 months - an attack of hypoglycemia, blood glucose 3.0 mmol/l. The introduction of insulin was stopped for 10 days, after 10 days the cat's appetite is normal, polyuria and polydipsia are not observed, body weight gain is 300 g, blood glucose without insulin therapy is 8.0 mmol/l.
 Clinical case 2. Cat Eva, age 12 years, body weight 6.7 kg, symptoms: polyuria/polydipsia during the last two weeks, increased appetite, diet - raw meat, meatballs, buckwheat porridge, boiled carrots, beets. Blood glucose 22.9 mmol/l, urine analysis – pH = 6.0, glucose ++++, ketones +. Diagnosis: diabetes. Treatment: Lantus 2 IU subcutaneously every 12 hours. After the start of insulin therapy, the condition improved, after 2 months, blood glucose was 9.00 - 13.0 mmol/l; 15.00 – 8.0 mmol/l, 21.00 – 12.0 mmol/l, glucose and ketones are absent in the urine.
 Conclusions. In the first clinical case, the cat there was a decrease in demand in insulin “Caninsulin” on the background of insulin therapy. In the second clinical case, insulin therapy with the help of "Lantus" insulin allows you to reach a level of glycemia at which diabetes stops progressing, the clinical condition of the animal normalizes, which indicates the effectiveness of the prescribed treatment. Thus, we can say that diabetes in small domestic animals is a rather severe endocrine pathology, which has typical clinical and laboratory symptoms and can be successfully treated with the help of a complex medical and diagnostic approach, based on insulin therapy

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive visual loss, epilepsy of unknown etiology and dementia. Presence of lipofuscin deposits with typical pattern of ‘fingerprints’ and vacuolized lymphocytes suggest the diagnosis of CLN3. Cause of CLN3 are mutations in the CLN3 gene, among which the most frequently found is the large deletion 1.02 kb spreading on exons 7 and 8. We present 4 patients from 2 families, in whom the deterioration of visual quality and acuity was observed as first clinical sign, when they were a few years old and it was successively accompanied by symptoms of neurologic deterioration (like generalized convulsions with consciousness impairment). In all patients the 1.02 kb deletion in the CLN3 gene was detected in homo- or heterozygosity with other CLN3 pathogenic variant. Ultrastructural studies revealed abnormal structures corresponding to ‘fingerprint’ profiles (FPPs) in conjunctival endothelial cells. It should be emphasized that in patients with blindness of unknown cause the diagnosis of ceroid lipofuscinosis should be considered and in older children—especially CLN3. The facility of the analysis for the presence of 1.02 kb deletion and economic costs are a solid argument for intensive use of this test in the diagnostic procedure of CLN3.

Thyroid Function Screening in Newborn: A Literature Review

The thyroid hormone has a vital role in the growth and maturation of many target tissues, especially the brain and bone. Abnormalities of thyroid gland function in neonates not only cause metabolic disorders such as thyroid disorders in adults but also cause tissue abnormalities whose growth and maturation depend on thyroid hormone. Furthermore, they are at high risk for permanent mental retardation if they do not get treatment immediately. Thyroid function abnormalities often do not show typical clinical signs and symptoms at birth, even though the duration of early intervention is very short to prevent mental retardation. Therefore, it is important to detect thyroid abnormalities in infants early through thyroid hormone screening in neonates. Most states use TSH for primary screening, with T4 as the second level of testing. Testing before the recommended time will detect a physiological TSH spike, causing a falsely abnormal result. The earlier the detection and treatment of hypothyroidism, the better the patient's prognosis.

Study on diagnosis and management strategies on heterotopic pregnancy: a retrospective study

Heterotopic pregnancy (HP) is a rare but potentially life-threatening event with a high risk of maternal death, which also jeopardise the coexisting intrauterine pregnancy (IUP), thus an early accurate diagnosis and prompt treatment can decrease adverse complications. We aimed to explore the early predictors for pregnancy outcomes of HP. We reviewed patients with HP following assisted reproductive technology in our institution between January 2013 and December 2020. The relationships between pregnancy outcomes and clinical features were analysed by logistic regression. We found that 29 patients (72.5%) of HP were accurately diagnosed by transvaginal ultrasonography (TVS). Eighteen patients in the surgery group had live births, three of whom delivered preterm. Additionally, the miscarriage rate was lower for patients with IUP cardiac activity than those without (16.7% vs. 90.0%, p < .001). Further by logistic regression analysis, an IUP with cardiac activity at HP diagnosis was identified as favourable independent predictor of live birth (p < .001). Therefore, early diagnosis and prompt surgical intervention are recommended to prevent the development of HP. Impact of statement What is already known on this subject? Heterotopic pregnancy (HP) has long been thought to be a rare but potentially life-threatening event with a high risk of complications. The early diagnosis of HP is challenging due to the co-existence of a viable intrauterine pregnancy (IUP) and the absence of typical clinical symptoms. What do the results of this study add? This stduy showed that symptoms combined with routine transvaginal ultrasonography (TVS) scans reduce the rates of misdiagnosis of HP and prompt surgical intervention after diagnosis may minimise the incidence of miscarriage of the IUP. What are the implications of these findings for clinical practice and/or further research? An IUP with cardiac activity at HP diagnosis is a predictor of a favourable prognosis of HP, and laparoscopy under general anaesthesia is effective and safe during the first trimester of pregnancy. Awareness, assessment and early interventions in view of symptoms combined with routine TVS is recommended to reduce the risk of miscarriage and ensure a favourable live birth rate.

Central Nervous System Infections Associated with the SARS-CoV-2 Virus

Neurological manifestations in addition to the typical clinical symptoms of COVID-19, have been reported around the world. A case series of clinical suspect of SARS-CoV-2 infection in the central nervous system (n=8) were analyzed. Cerebral Spinal Fluid (CSF) and nasopharyngeal swab were analyzed by RT-PCR. Our results showed SARS-CoV-2 in five CSF samples and three patients testing positive for COVID-19 also on nasopharyngeal swab. The patients showed different clinical manifestations, including &lt;95% saturation, fever, cough, dyspnea and abdominal pain. The findings of this study alert to the existence of nonspecific symptoms associated with central nervous system infection caused by SARS-CoV-2.

Mycotic keratitis – Experience in Europe

AbstractMycotic keratitis is a rare but severe ophthalmological illness, which has to be taken very seriously with a potentially sight‐threatening outcome. Over the last two decades, an increase of cases with mycotic keratitis has been noticed, which has possibly caused an increased use of soft contact lenses. Therapy is often lengthy and difficult. In a lot of cases, surgical therapy, i.e. corneal transplantation is indicated. For this reason, it is essential to discuss during the clarification process the necessity of a keratoplasty during the course of treatment. In this talk, we would like to give an overview on the typical clinical signs, symptoms, diagnostics and therapy options as well as confocal microscopy for diagnosis of mycotic keratitis.

Дефіцит орнітин-транскарбамілази - мало відоме орфанне захворювання в дитячій гепатології (клінічний випадок)

The article reviews literature and demonstrates personal observation of a preschool patient with ornithine transcarbamylase deficiency. This disease is characterized by an excessive accumulation of ammonia in the body, which leads to damage of the nervous system, gastrointestinal tract, and impaired liver function. It has a genetically determined mechanism of development associated with mutations in the OTC gene. Purpose - to study specific aspects of manifestation, clinical picture, course and diagnosis of ornithine transcarbamylase deficiency. Clinical case. Girl U. was admitted to the pediatric hepatology department with complaints of abdominal pain, periodic vomiting, accompanied by high ketones in urine test, irritability, tearfulness, emotional lability, and increased liver enzyme levels. Physical exam revealed hepatosplenomegaly. Bloodwork series showed transaminase levels 4-20 times ULN, hyperammonemia, and increased orotic acid in urine. A molecular genetic study was performed, and identified a variant of uncertain significance in the OTC gene associated with X-linked ornithine transcarbamylase deficiency. Metabolic therapy and protein-restricted nutrition were prescribed to prevent hyperammonemia. Conclusions. Transcarbamylase deficiency is a rare genetic disease characterized by excessive accumulation of ammonia in the body with typical clinical and laboratory symptoms. Detection of ammonia concentration and molecular genetic testing are crucial diagnostic components in children with liver diseases associated with other organs and systems damage. Untimely diagnosis and treatment correlates with the severity of the disease, the development of irreversible changes, disability and possible death in young age. The study was performed according to the principles of the Declaration of Helsinki. The informed consent of the child's parents was obtained for the conducted research. The authors declare no conflict of interest.