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The monogenic causes of very-early-onset inflammatory bowel disease (VEO-IBD) have been defined by genetic studies, which were usually related to primary immunodeficiencies. Receptor-interacting serine/threonine-protein kinase-1 (RIPK1) protein is an important signalling molecule in inflammation and cell death pathways. Its deficiency may lead to various clinical features linked to immunodeficiency and/or inflammation, including IBD. Here, we discuss an infant with malnutrition, VEO-IBD, recurrent infections and polyathritis who has a homozygous partial deletion in RIPK1 gene.
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Deleção de Genes , Doenças Inflamatórias Intestinais , Proteína Serina-Treonina Quinases de Interação com Receptores , Humanos , Lactente , Masculino , Idade de Início , Doenças Inflamatórias Intestinais/genética , Doenças Inflamatórias Intestinais/diagnóstico , Proteína Serina-Treonina Quinases de Interação com Receptores/genética , Proteína Serina-Treonina Quinases de Interação com Receptores/deficiênciaRESUMO
OBJECTIVE: Familial Mediterranean fever (FMF) is the most prevalent hereditary autoinflammatory disease among children. Abdominal pain and various gastrointestinal system (GIS) manifestations may arise directly from FMF or concomitantly with FMF. This study aimed to evaluate GIS complaints and findings other than classic peritonitis attacks in patients with FMF and to interpret concomitant GIS and hepatic disorders in these patients. METHODS: The medical and genetic findings of patients with FMF who attended our clinic between December 2011 and December 2021 were reviewed. Gastrointestinal system symptoms, liver function tests, abdominal images, and endoscopic and histopathological data were extracted from medical records. RESULTS: A total of 576 pediatric patients (female, 52.3%) diagnosed with FMF were included. Among them, almost one-fifth displayed GIS complaints, such as abdominal pain, defecation problems, and dyspepsia, distinct from typical FMF attacks. High serum aminotransferase levels were detected in 18.4% of the patients, with viral infections being the most common cause of moderate/severe hypertransaminasemia. In addition, during follow-up, 26.9% of them were referred to the pediatric gastroenterology department. At least 1 gastroenterological and hepatobiliary disorder was detected in 17.5% of the patients because of organic and functional GIS disorders or hepatobiliary disorders, such as gastroesophageal reflux disease, esophagitis, functional dyspepsia, and inflammatory bowel diseases. CONCLUSION: Various GIS and hepatic disorders can be encountered in children with FMF. The spectrum of these complaints and pathologies can range from frequently observed health problems to more severe diseases.
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Dispepsia , Febre Familiar do Mediterrâneo , Gastroenteropatias , Humanos , Criança , Feminino , Febre Familiar do Mediterrâneo/diagnóstico , Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/complicações , Dispepsia/complicações , Gastroenteropatias/diagnóstico , Gastroenteropatias/epidemiologia , Gastroenteropatias/etiologia , Dor Abdominal/diagnóstico , Dor Abdominal/epidemiologia , Dor Abdominal/etiologiaRESUMO
BACKGROUND: Autoimmune atrophic gastritis (AIG) is very rare in children. Despite a better understanding of histopathologic changes and serological markers in this disease, underlying etiopathogenic mechanisms and the effect of Helicobacter pylori (H pylori) infection are not well known. We aimed to investigate the relation between AIG and H pylori infection in children. MATERIALS AND METHODS: We evaluated the presence of AIG and H pylori infection in fifty-three patients with positive antiparietal cell antibody (APCA). Demographic data, clinical symptoms, laboratory and endoscopic findings, histopathology, and presence of H pylori were recorded. RESULTS: The children were aged between 5 and 18 years, and 28 (52.8%) of them were male. Mean age was 14.7 ± 2.6 years (median: 15.3; min-max: 5.2-18), and 10 (18.8%) of them had AIG confirmed by histopathology. In the AIG group, the duration of vitamin B12 deficiency was longer (P = .022), hemoglobin levels were lower (P = .018), and APCA (P = .039) and gastrin (P = .002) levels were higher than those in the non-AIG group. Endoscopic findings were similar between the two groups. Intestinal metaplasia was higher (P = .018) in the AIG group. None of the patients in the AIG group had H pylori infection (P = .004). One patient in the AIG group had enterochromaffin-like cell hyperplasia. CONCLUSIONS: Our results show that, in children, H pylori infection may not play a role in AIG. AIG could be associated with vitamin B12 deficiency, iron deficiency, and APCA positivity in children. APCA and gastrin levels should be investigated for the early diagnosis of AIG and intestinal metaplasia.
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Doenças Autoimunes/etiologia , Gastrite Atrófica/etiologia , Infecções por Helicobacter/complicações , Adolescente , Anemia Ferropriva/complicações , Criança , Pré-Escolar , Feminino , Gastrinas/metabolismo , Helicobacter pylori/isolamento & purificação , Humanos , Masculino , Metaplasia/complicações , Células Parietais Gástricas/patologia , Estudos Retrospectivos , Estômago/patologia , Deficiência de Vitamina B 12/complicaçõesRESUMO
BACKGROUND: Recurrent aphthous stomatitis (RAS) is one of the most common diseases of the oral mucosa and may be related to vitamin deficiencies or systemic diseases such as celiac disease (CD). The aim of this study was to investigate the frequency of hematinic deficiency and CD in children with RAS. METHODS: The medical records of patients diagnosed with RAS were reviewed for the presence of hematinic deficiencies (hemoglobin, mean corpuscular volume, ferritin, vitamin B12 , folic acid), and CD. The study group included 108 children with RAS and 57 healthy children who were evaluated for hematological abnormalities in routine evaluation. RESULTS: The frequency of a family history of RAS was significantly higher in the RAS group compared to the control group (34.2% vs 7%, respectively; P < 0.001). A hematological abnormality was detected in 32.4% of the RAS group and 10.5% of the control group (P = 0.02). The prevalence of iron deficiency anemia was significantly higher in the RAS group (P = 0.037). Three (2.7%) patients with RAS were diagnosed with CD, which is a significantly higher frequency than that observed in healthy children in Turkey (P < 0.01; OR 6.03, 95% CI [2.37, 4.56]). These children had mild malnutrition, iron deficiency, and iron deficiency anemia. CONCLUSIONS: Children with RAS should be evaluated for nutritional status and hematological indices, and in the case of hematological abnormalities and malnutrition screening for CD should be considered.
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Anemia Ferropriva/epidemiologia , Doença Celíaca/epidemiologia , Deficiência de Ácido Fólico/epidemiologia , Estomatite Aftosa/epidemiologia , Deficiência de Vitamina B 12/epidemiologia , Adolescente , Doença Celíaca/sangue , Criança , Pré-Escolar , Índices de Eritrócitos , Feminino , Ferritinas/análise , Hemoglobinas/análise , Humanos , Lactente , Masculino , Estado Nutricional , Estomatite Aftosa/sangue , Turquia/epidemiologiaRESUMO
OBJECTIVE: Cytomegalovirus (CMV) infection may rarely lead to protein-losing gastropathy that presents with nausea, vomiting, abdominal pain, and edema in immunocompetent children, but extremely rarely with only generalized edema. CLINICAL PRESENTATION AND INTERVENTION: A previously healthy 5-year-old boy presented with generalized edema without any other symptoms. He had hypoalbuminemia but no proteinuria. He was evaluated for gastrointestinal protein loss, and hypertrophic gastropathy was revealed on esophagogastroduodenoscopy. Meanwhile, CMV infection was detected by serologic tests and polymerase chain reaction in the blood. He recovered spontaneously within a week. CONCLUSION: CMV-related protein-losing gastropathy may present with generalized edema without any gastrointestinal symptoms.
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Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico , Edema/complicações , Criança , Citomegalovirus/isolamento & purificação , Humanos , MasculinoRESUMO
DOCK8 deficiency is a rare inherited combined immunodeficiency, caused by mutations in the DOCK8 gene. We describe a case with DOCK8 deficiency associated with severe CLD in whom orthotopic LT was performed successfully after allogeneic HSCT. A 5 year-old girl with DOCK8 deficiency presented with mild direct hyperbilirubinemia and abnormal GGT level and without a previous history of jaundice. She had severe growth retardation, hepatosplenomegaly and generalized eczema. Progressive worsening of CLD was observed within 4 months. Investigations for etiology of liver disease were negative. Liver biopsy showed bridging necrosis, cholestasis and, cirrhosis. Recurrent immune hemolytic crisis and several viral infections developed in follow-up. She underwent whole cadaveric LT for end-stage liver disease (ESLD) 1 year after allogenic HSCT from a full matched related donor. The postoperative course was uneventful. The patient is alive with normal liver function and moderate skin graft versus host disease for 36 months after LT. In conclusion DOCK8 deficiency can be associated with severe CLD. Successful LT following HSCT is possible in patients with ESLD in DOCK8 deficiency. The timing of LT is challenging in patients requiring both HSCT and LT since conditioning regimens for HSCT can be highly hepatotoxic and the patients with suboptimal liver function can become decompensated during HSCT.
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Colestase Intra-Hepática/terapia , Fatores de Troca do Nucleotídeo Guanina/deficiência , Transplante de Células-Tronco Hematopoéticas , Transplante de Fígado , Imunodeficiência Combinada Severa/terapia , Biomarcadores/metabolismo , Pré-Escolar , Colestase Intra-Hepática/etiologia , Terapia Combinada , Feminino , Fatores de Troca do Nucleotídeo Guanina/genética , Humanos , Mutação , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/metabolismoRESUMO
AIM: The aim of this study was to evaluate the clinical presentation, risk factors, complications, treatment and outcomes of cholelithiasis in children. METHODS: Children with cholelithiasis were reviewed for demographic information, predisposing factors, presenting symptoms, laboratory findings, complications, treatment and outcome, retrospectively. RESULTS: A total of 254 children with cholelithiasis (mean age: 8.9 ± 5.2 years) were recruited to the study. Girls (52.8%) were significantly older than boys (P < 0.001). Symptomatic patients (59%) were significantly older than asymptomatic patients (P = 0.002). Abdominal pain was the most frequent symptom. No risk factors were identified in 56.6% of the patients. Ceftriaxone (20%) was the most commonly associated risk factor. At presentation, at least one of the following complications was seen in 14.1% of patients: cholecystitis (10.9%), obstructive jaundice (2.7%), pancreatitis (1.96%) and cholangitis (1.2%). There was no relationship between gallstone size and symptoms, aetiological factors and complications. The cholelithiasis dissolution rate was higher in younger children (P = 0.032), in those with biliary sludge (P < 0.0001) and ceftriaxone-related cholelithiasis (P < 0.001). Haemolytic anaemia (P = 0.001) and older age (P = 0.002) were associated with stable stones. Ursodeoxycholic acid was administered to 94.4% of patients at presentation. Twenty-nine patients underwent cholecystectomy, and seven patients underwent endoscopic retrograde cholangiopancreotography. Patients who were symptomatic at presentation had significantly more frequent symptoms at follow-up (P < 0.001) CONCLUSIONS: Dissolution rate of cholelithiasis was higher in younger children, biliary sludge formation and ceftriaxone-related cholelithiasis but lower in older children and haemolytic anaemia-related cholelithiasis.
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Colelitíase/complicações , Colelitíase/etiologia , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Fatores de RiscoRESUMO
OBJECTIVE: To present the mesalamine-induced acute exacerbation of symptoms and inflammatory markers in children with Crohn's disease (CD). CLINICAL PRESENTATION AND INTERVENTION: Three children who presented with CD had acute exacerbation of colitis symptoms or elevated inflammatory markers when mesalamine was added to treatment while tapering/ceasing steroid treatment. While on steroid treatment, the patients maintained clinical and laboratory remission, but with the initiation of mesalamine treatment, they had abdominal pain and bloody mucoid diarrhoea and/or elevation of white blood cell count, C-reactive protein level and erythrocyte sedimentation rate. Bacterial pathogens were excluded from the urine, throat and blood cultures, parasites with stool examination, viral pathogens with serology. Within 3-7 days after the mesalamine treatment had been stopped, the patients showed improvement of colitis symptoms and normalisation of white blood cell count, C-reactive protein level and erythrocyte sedimentation rate. CONCLUSION: In this study mesalamine mimicked CD relapse in children with CD while tapering or after stopping steroid treatment. Awareness of this side effect of mesalamine could prevent a misdiagnosis of steroid dependency.
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Anti-Inflamatórios não Esteroides/efeitos adversos , Doença de Crohn/tratamento farmacológico , Doença de Crohn/imunologia , Mesalamina/efeitos adversos , Adolescente , Corticosteroides/administração & dosagem , Anti-Inflamatórios não Esteroides/uso terapêutico , Proteína C-Reativa/análise , Criança , Feminino , Humanos , Mediadores da Inflamação/sangue , Mesalamina/uso terapêuticoRESUMO
In recent decades, the patient survival is increased due to advances in intensive care units and development of modern mechanic ventilators. Unfortunately, it is not always possible to wean these children from mechanical ventilation. Recently, after placement a tracheostomy tube, these children can be supported at home with noninvasive or invasive mechanical ventilation. Most of the children who need ventilation support at home have neurological impairment. The nutritional issues and gastrointestinal (GI) complications are well defined in critically ill patients, but there are very limited studies on children with tracheostomy. Considering that majority of the patients have neuromuscular disorders, the nutritional and GI problems of the children with tracheostomy are discussed in light of the knowledge of critically ill patients.
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Introduction: Trichothiodystrophy type 4 and glutaric aciduria type 3 are rare autosomal recessive disorders caused by biallelic variants in the MPLKIP and SUGCT genes on chromosome 7p14, respectively. Trichothiodystrophy type 4 is characterized by neurologic and cutaneous abnormalities. Glutaric aciduria type 3 is a rare metabolic disorder with inconsistent phenotype and elevated urinary excretion of glutaric acid. Case Presentation: Here, we report on an infant presenting with hypotonia, failure to thrive, microcephaly, dysmorphic features, brittle hair, hypertransaminasemia, and recurrent lower respiratory tract infections. Microarray analysis revealed a homozygous microdeletion involving the MPLKIP and SUGCT genes, which are located close to each other. Conclusion: Copy number variations should be considered in patients with coexisting clinical expression of different genetic alterations. To the best of our knowledge, our patient is the second case with co-occurrence of trichothiodystrophy type 4 and glutaric aciduria type 3, resulting from a contiguous gene deletion.
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Primary enteropathies of infancy comprise of epithelial defects including microvillus inclusion disease, tufting enteropathy, and enteroendocrine cell dysgenesis and autoimmune enteropathies. The diseases in this group cause severe chronic (>2-3 weeks) diarrhoea starting in the first weeks of life and resulting in failure to thrive in the infant. Duodenal biopsies show moderate villous shortening together with crypt hyperplasia which are the main features causing resemblance to coeliac disease. We, hereby, report a term-born male infant of consanguineous parents. His two siblings died during infancy. He developed watery, urine-like diarrhea on the 3rd day of his life. On the postnatal 6th day he weighed 2750 grams, became dehydrated and had metabolic acidosis. Upper GI endoscopy performed on the postnatal 20th day appeared normal. Light microscopic examination of the duodenal biopsy showed moderate villous blunting, with mildly increased inflammatory cells in the lamina propria or and intraepithelial lymphocytosis. Enterocytes at the villous tips showed an irregular vacuolated appearance in the apical cytoplasm with patchy absence of the brush border demonstared by PAS and CD10. Electron microscopy revealed intracytoplasmic inclusions that were lined by intact microvilli in the apical cytoplasm of enterocytes. As he was dependent on TPN and aggressive intravenous fluid replacement he was hospitalized throughout his life. He died when he was 3 years and 4 months old. Paediatric coeliac disease is in the differential diagnosis of primary enteropathies of childhood. The differentiation lies on duodenal biopsy interpretation together with genetic analysis to detect the underlying genetic defect in childhood enteropathies.
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A 7-year-old boy with known diagnosis of hereditary spherocytosis and ulcerative colitis was referred for 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography after detection of a 28 mm lesion suspicious for malignancy in spleen on upper abdomen magnetic resonance imaging (MRI). As an incidental finding, a moderately increased uptake of 18F-FDG was observed in periportal region with no definable mass. MRI revealed compatible findings with "periportal cuffing" as described on ultrasonography.
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Thiamine is the cofactor of many enzymes involved in energy metabolism. Patients under total parenteral nutrition are at risk for thiamine deficiency if there is renal thiamine loss or increased thiamine requirements to mitigate systemic diseases. Thiamine deficiency symptoms include seizures, neuropathy, ataxia, peripheral vasodilation, myocardial insufficiency, sudden collapse, and death. In this report, we present an infant liver transplant recipient with progressive lactic acidosis that responded well to thiamine replacement to mitigate a lack of thiamine in total parenteral nutrition.
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Acidose Láctica , Transplante de Fígado , Deficiência de Tiamina , Humanos , Lactente , Acidose Láctica/diagnóstico , Acidose Láctica/etiologia , Acidose Láctica/terapia , Transplante de Fígado/efeitos adversos , Deficiência de Tiamina/diagnóstico , Deficiência de Tiamina/tratamento farmacológico , Deficiência de Tiamina/etiologia , Tiamina/uso terapêutico , Nutrição Parenteral Total/efeitos adversosRESUMO
Introduction: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia. Methods: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed. Results: Overall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001). Discussion: Questioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial Registration: Clinicaltrials.gov NCT04120168.
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Objective: To evaluate growth, tolerance and safety outcomes with use of an extensively hydrolyzed casein-based formula (eHCF) in infants with cow's milk protein allergy (CMPA). Methods: A total of 226 infants (mean ± SD age: 106.5 ± 39.5 days, 52.7% were girls) with CMPA who received eHCF comprising at least half of the daily dietary intake were included. Data on anthropometrics [weight for age (WFA), length for age (LFA) and weight for length (WFL) z-scores] were recorded at baseline (visit 1), while data on infant feeding and stool records, anthropometrics and Infant Feeding and Stool Patterns and Formula Satisfaction Questionnaires were recorded at visit 2 (on Days 15 ± 5) and visit 3 (on Days 30 ± 5). Results: From baseline to visit 2 and visit 3, WFA z-scores (from -0.60 ± 1.13 to -0.54 ± 1.09 at visit 2, and to -0.44 ± 1.05 at visit 3, p < 0.001) and WFL z-scores (from -0.80 ± 1.30 to -0.71 ± 1.22 at visit 2, and to -0.64 ± 1.13 at visit 3, p = 0.002) were significantly increased. At least half of infants never experienced irritability or feeding refusal (55.7%) and spit-up after feeding (50.2%). The majority of mothers were satisfied with the study formula (93.2%), and wished to continue using it (92.2%). Conclusions: In conclusion, eHCF was well-accepted and tolerated by an intended use population of infants ≤ 6 months of age with CMPA and enabled adequate volume consumption and improved growth indices within 30 days of utilization alongside a favorable gastrointestinal tolerance and a high level of parental satisfaction.
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BACKGROUND: Celiac disease is an autoimmune enteropathy triggered by the presence of gluten. There are Celiac Disease Dutch-Child Quality of Life Scale, Celiac-Specific Pediatric Quality of Life Scale for children/adolescents patients to measure the quality of life. In this study, due to lack of quality of life scales for children with celiac in Turkey, we aimed at Turkish adaptation of the Celiac-Specific Pediatric Quality of Life Scale. METHODS: This methodological study was conducted in Ankara University Faculty of Medicine, Cebeci Hospital Hospital between July 2019 and July 2020. A total of 192 children were included. Reliability was demonstrated by the Cronbach's alpha coefficient. Structural validity was evaluated using explanatory factor analysis and confirmatory factor analysis. The Statistical Package for Social Sciences (SPSS) 22.0 and Amos were used in analyses. RESULTS: In 8-12 age groups; Cronbach's alpha was 0.92 in negative emotions dimension, 0.88 in school dimension, and 0.74 in enjoyment dimension. In explanatory factor analysis, Kaiser-Meyer-Olkin measure of sampling adequacy value was 0.698, Bartlett's test of sphericity was significant (P < .001). Variance explained was 75.8%. In confirmatory factor analysis, X2/df was 3.26, root mean square error of approximation value was 0.07, comparative fit index value was 0.96. In 13-18 age groups; Cronbach's alpha was 0.87 in social dimension, 0.84 in uncertainty dimension, 0.78 in isolation dimension, and 0.83 in limitations dimension. In explanatory factor analysis, Kaiser-Meyer-Olkin measure of sampling adequacy was 0.684, Bartlett's test of sphericity was significant (P < .001). Variance explained was 68.6%. In confirmatory factor analysis, X2/sd value was 3.78, root mean square error of approximation value was 0.061, and comparative fit index value was 0.961. CONCLUSION: Cronbach's alpha values of the groups were found to be above 0.70. Kaiser-Meyer-Olkin values were above 0.5 in terms of sample size, Bartlett's tests for sphericity were significant in terms of correlations between variables, root mean square error of approximation values were below 0.08, comparative fit index and goodness of fit index values were above 0.95 in terms of model fit. If the scales have been found to be valid and reliable, it is recommended for use in Turkey.
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Doença Celíaca , Qualidade de Vida , Adolescente , Criança , Humanos , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários , TurquiaRESUMO
Introduction: Classic galactosemia is a disorder of the galactose metabolism and is inherited as an autosomal recessive disease. It is caused by a complete or severe deficiency of galactose-1-phosphate uridyltransferase (GALT), and in rare cases, atypical galactosemia can manifest at older ages. Wilson disease (WD) is a disorder of the copper metabolism that, like galactosemia, is inherited as an autosomal recessive disease. Hepatic, neurological, or psychiatric symptoms can be seen, independently or in combination, and symptoms vary from family to family. We present here a patient diagnosed with both WD and galactosemia. Case Presentation: A 6-year-old girl was referred to our center with elevated transaminase levels and hepatosplenomegaly. The child, birthweight of 2,200 g, was born to first-degree consanguineous parents after a full-term uneventful pregnancy and was hospitalized in the neonatal period due to indirect hyperbilirubinemia, gastrointestinal bleeding, diarrhea lasting 2 weeks, and elevated liver enzymes. Hepatosplenomegaly was evident at the time of admission, a cataract was detected, and a neuropsychiatric evaluation revealed borderline mental capacity, as well as cognitive and speech retardation. Metabolic investigations revealed no specific findings other than trace positivity of reducing substances in the urine. A liver biopsy revealed copper accumulation in hepatocytes and low ceruloplasmin levels. Although WD was suspected in the patient, this diagnosis did not explain the intellectual disability, behavioral disorder, or cataract findings. A genetic analysis revealed homozygous mutations in the ATP7B and GALT genes. The galactose-1-phosphate uridyltransferase enzyme level was found to be low, and the patient was diagnosed with coexisting WD and galactosemia. Conclusion: Coexistences of rare genetically transmitted diseases can be seen in countries where consanguineous marriages are common (Saudi Arabia, Iran, Pakistan, etc.), as in our country, Turkey.
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OBJECTIVES: Deoxyguanosine kinase (DGUOK) deficiency is one of the leading causes of the mitochondrial DNA-depletion syndromes (MDDS) associated with hepatocerebral involvement. Herein, we present four cases of DGUOK deficiency to emphasize the clinical variability of disease and the challenges in the diagnosis of DGUOK deficiency. CASE PRESENTATION: Hepatomegaly, hyperlactatemia, elevated alpha fetoprotein (AFP), alanine, and transaminase levels were detected in all patients, and cholestasis, coagulopathy, and hypotonia were common findings. All patients had a low birth weight, one patient underwent liver transplantation (LT). Clinical and laboratory findings of two patients and one patient suggested neonatal hemochromatosis and type 1 tyrosinemia, respectively. All patients were diagnosed with DGUOK deficiency by performing molecular genetic analysis. CONCLUSIONS: Mitochondrial DNA-depletion syndromes should be kept in mind in cases in which hypotonicity, lactic acidosis, and neonatal cholestasis are observed. DGUOK deficiency may present in different clinics suggesting neonatal hemochromatosis or tyrosinemia type 1.