Revised one-bag IV fluid protocol for pediatric DKA: a feasible approach and retrospective comparative study.

BACKGROUND: This study compared the effectiveness of the traditional and revised one-bag protocols for pediatric diabetic ketoacidosis (DKA) management. METHODS: This single-center retrospective cohort study included children diagnosed with DKA upon admission between 2012 and 2019. Our institution reevaluated and streamlined the traditional one-bag protocol (revised one-bag protocol). The revised one-bag protocol rehydrated all pediatric DKA patients with dextrose (5 g/100 ml) containing 0.45% NaCl at a rate of 3500 ml/m2 per 24 h after the first 1 h bolus of normal saline, regardless of age or degree of dehydration. This study examined acidosis recovery times and the frequency of healthcare provider interventions to maintain stable blood glucose levels. RESULTS: The revised one-bag protocol demonstrated a significantly shorter time to acidosis recovery than the traditional protocol (12.67 and 18.20 h, respectively; p < 0.001). The revised protocol group required fewer interventions for blood glucose control, with an average of 0.25 dextrose concentration change orders per patient, compared to 1.42 in the traditional protocol group (p < 0.001). Insulin rate adjustments were fewer in the revised protocol group, averaging 0.52 changes per patient, vs. 2.32 changes in the traditional protocol group (p < 0.001). CONCLUSION: The revised one-bag protocol for pediatric DKA is both practical and effective. This modified DKA management achieved acidosis recovery more quickly and reduced blood glucose fluctuations compared with the traditional one-bag protocol. Future studies, including randomized controlled trials, should assess the safety and effectiveness of the revised protocol in a broad range of pediatric patients with DKA.

Chromhidrosis due to exogenous oxidizing heavy metals: Clinical and laboratory findings.

BACKGROUND/OBJECTIVES: Chromhidrosis is a rare condition of which there are only a few case reports in the literature. The aim of this study was to evaluate clinical, laboratory, and possible environmental factors in 13 patients with chromhidrosis to elucidate causative agents. METHODS: Data were obtained from the medical records of 13 patients with colored sweating between October 2015 and November 2016 (7 infants <1 year of age, 5 adults, 1 adolescent). RESULTS: Physical examination was normal in all patients. Nine of 12 had high calculated serum free copper (75%). Urine glutamine was measured in 13 patients and was high in 11 (84.6%). Ten patients drank natural mineral water from Uludag Mountain, and two were exposed to an intrauterine device containing copper. One patient (8%) was not exposed to Uludag Mountain natural water or an intrauterine device. CONCLUSION: We propose that chronic exposure to water or devices that contain high amounts of heavy metal and ammonium may contribute to CH.

Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.

PURPOSE: Homozygous mutations in the HAX1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN). There are limited data on cases of gonadal insufficiency that involve the HAX1 gene mutation. We aimed to evaluate the pubertal development and gonadal functions of our patients with a p.Trp44X mutation in the HAX1 gene. METHOD: Pubertal development, physical and laboratory findings of one male and seven female patients with HAX1 deficiency were evaluated. RESULTS: The age of the patients was between 13 and 25 years. All female patients were diagnosed with primary ovarian insufficiency (POI) based on amenorrhea and elevated gonadotropins. The ovary volumes in female patients were determined to be smaller than normal for their age through sonographic studies. Short stature associated with gonadal insufficiency was also observed in three patients. CONCLUSION: The HAX1 gene is important for ovarian development, in which a p.Trp44X mutation may cause POI in female patients. It is crucial to follow up and evaluate the gonadal functions of female patients in such cases.

An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?

There are published reports stating that some of the congenital metabolic diseases, such as lysinuric protein intolerance, multiple sulphatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, might lead to secondary hemophagocytic lymphohistiocytosis (HLH). However, to date, to our knowledge, the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has never been investigated among patients with HLH. Here, we report on a patient who was referred to our institution for a differential diagnosis of pancytopenia, liver failure, and rhabdomyolysis. The patient was diagnosed with HLH. Further investigation revealed an underlying diagnosis of the LCHAD deficiency. Our case was reported to contribute to the literature, as well as the HLH clinic, emphasizing the consideration of LCHAD deficiency, especially in 1 to 6 months' old infants with laboratory findings of hypoglycemia, metabolic acidosis, and elevated creatine kinase.

Pediatric patients with pheochromocytoma: Experience of a tertiary health center.

BACKGROUND: The aim of this retrospective study was to investigate pheochromocytoma (pheo), which is a rare endocrine tumor in the pediatric population. METHODS: The medical records of five children with pheo were studied. The age, gender, clinical presentation, family history, physical findings, coexisting pathology, laboratory evaluation, surgical treatment, and postoperative course were investigated. RESULTS: The patients were four girls and one boy with a mean age of 13.2 years (range, 9.57-15.95 years). None of the patients had paroxysmal hypertension and one had normal blood pressure. No malign pheo was identified. Mean height and weight standard deviation scores (SDS), body mass index (BMI), and BMI SDS were -0.24, 0.04, 20.9 kg/m(2), and 0.20 at the time of diagnosis, and 0.03, 0.43, 23.8 kg/m(2) and 0.49 1 year after operation, respectively. BMI increased significantly after operation. Three patients had normal epinephrine and metanephrine, but elevated norepinephrine and normetanephrine on 24 h urine. Vanillylmandelic acid on 24 h urine sample was elevated in all patients. Ultrasonography failed to visualize tumors in two patients with bilateral pheo. One patient had postoperative severe hypotension. Insulin resistance associated with severe acanthosis nigricans observed in one patient regressed postoperatively. CONCLUSIONS: Pheo in children may present with different symptoms and findings. Decreased catecholamine in the postoperative period may lead to weight gain.

Evaluation of electrocardiographic parameters for early diagnosis of autonomic dysfunction in children and adolescents with type-1 diabetes mellitus.

BACKGROUND: The aim of this study was to identify the sensitivity of electrocardiogram (ECG) in early diagnosis of cardiac autonomic function disorder in children with type 1 diabetes mellitus. METHODS: A total of 150 children and adolescents with type 1 diabetes mellitus were enrolled between June 2009 and June 2010, as well as 100 age- and sex-matched healthy control children. Twelve-lead ECG was done in all cases and heart rate, QT and QTc interval, dispersion of P wave (Pd), and of QT (QTd) and QTc interval (QTcd) were measured. The clinical and demographic features such as age, gender, duration of follow up and level of HbA1c and fasting glucose were obtained and the effects of these parameters on ECG measurements were investigated. RESULTS: The mean age of the patients and controls was 11.61 ± 3.72 years and 10.92 ± 3.2 years, respectively. QT and QTc interval and QTcd interval were significantly higher in diabetic children compared to healthy controls but these ECG findings were not associated with the duration of diabetes or glycemic state. Pd was significantly higher in the diabetic patients with HbA1c >7.5% compared to control, and this was also found in patients that were followed up >1 year. CONCLUSIONS: Cardiac autonomic function disorder, which is one of the most important causes of morbidity and mortality, may emerge in the course of type 1 diabetes mellitus. It can be diagnosed on ECG even when the patients are asymptomatic.

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

OBJECTIVE: In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis (TDH). CONTEXT: Thyroid dyshormonogenesis comprises 10-15% of all cases of congenital hypothyroidism (CH), which is the most common neonatal endocrine disorder, and might result from disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes (NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have been implicated in the aetiology of the disease. DESIGN: As TDH is mostly inherited in an autosomal recessive manner, we planned to conduct the study in consanguineous/multi-case families. PATIENTS: One hundred and four patients with congenital TDH all coming from consanguineous and/or multi-case families. MEASUREMENTS: Initially, we performed potential linkage analysis of cases to all seven causative-TDH loci as well as direct sequencing of the TPO gene in cases we could not exclude linkage to this locus. In addition, in silico analyses of novel missense mutations were carried out. RESULTS: TPO had the highest potential for linkage and we identified 21 TPO mutations in 28 TDH cases showing potential linkage to this locus. Four of 10 distinct TPO mutations detected in this study were novel (A5T, Y55X, E596X, D633N). CONCLUSIONS: This study underlines the importance of molecular genetic studies in diagnosis, classification and prognosis of CH and proposes a comprehensive mutation screening by new sequencing technology in all newly diagnosed primary CH cases.

Maltodextrin May Be a Promising Treatment Modality After Near-total Pancreatectomy in Infants Younger Than Six Months with Persistent Hyperinsulinism: A Case Report

Persistent hypoglycemia in infants with congenital hyperinsulinism (CHI) can be challenging in approximately half of these cases, even after undergoing a near-total pancreatectomy. While maltodextrin has been recommended in the nutritional management of CHI cases younger than six months, information regarding its efficacy in managing hypoglycemia are not yet clear. Here, we present a male infant with CHI who experienced persistent hypoglycemia even after undergoing a near-total pancreatectomy and despite multiple medical treatments. The infant's hypoglycemic episodes were successfully controlled by adding maltodextrin to his diet.

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions in thyroid organogenesis and are mostly sporadic, but about 2% of thyroid dysgenesis is familial, indicating the involvement of genetic factors in the aetiology of the disease. In this study, we aimed to investigate the Mendelian (single-gene) causes of non-syndromic and non-goitrous congenital hypothyroidism (CHNG) in consanguineous or multi-case families. Here we report the results of the second part (n=105) of our large cohort (n=244), representing the largest such cohort in the literature, and interpret the overall results of the whole cohort. Additionally, 50 sporadic cases with thyroid dysgenesis and 400 unaffected control subjects were included in the study. In familial cases, first, we performed potential linkage analysis of four known genes causing CHNG (TSHR, PAX8, TSHB, and NKX2-5) using microsatellite markers and then examined the presence of mutations in these genes by direct sequencing. In addition, in silico analyses of the predicted structural effects of TSHR mutations were performed and related to the mutation specific disease phenotype. We detected eight new TSHR mutations and a PAX8 mutation but no mutations in TSHB and NKX2-5. None of the biallelic TSHR mutations detected in familial cases were present in the cohort of 50 sporadic cases. Genotype/phenotype relationships were established between TSHR mutations and resulting clinical presentations. Here we conclude that TSHR mutations are the main detectable cause of autosomal recessively inherited thyroid dysgenesis. We also outline a new genetic testing strategy for the investigation of suspected autosomal recessive non-goitrous CH.

Telemedicine experiences at a pediatric endocrinology clinic during the COVID-19 pandemic.

BACKGROUND: The coronavirus 19 (COVID-19) pandemic has affected all aspects of life, including the routine follow-up of patients with chronic illnesses. In this study, we aim to share our experience of telemedicine in our pediatric endocrinology clinic during the pandemic. METHODS: We were able to continue caring for children with endocrine disorders using various communication methods such as e-mail and e-message. RESULTS: A total of 267 patients received telemedicine care over the course of 608 contacts. The number of hospital visits and physical contact was effectively reduced to help protect against the COVID-19 infection. The patients were supported in terms of receiving their prescriptions and patient education also continued. No complications were observed. CONCLUSION: The advantages and disadvantages of telemedicine were discussed and consequently, we propose that telemedicine can be utilized to maintain and continue the care of children with endocrine disorders during and even after the pandemic. Further studies are needed to standardize this method for general use.

Time-dependent alterations in growth and bone health parameters evaluated at different posttreatment periods in pediatric oncology patients.

Bone mineral density (BMD) and anthropometric measurements in pediatric cancer patients were evaluated and compared at early and late posttreatment periods. Sixty-six pediatric cancer patients who recovered completely following treatment longer than at least a 6-month period were included in the study. Patients were evaluated cross-sectionally and prospectively with regard to anthropometric measurements and BMD twice; the first being at a mean period of 2.62 ± 1.44 years and the second of 6.55 ± 1.71 years after the completion of treatment. Rates of osteoporosis and osteopenia at first or second evaluation were 25.8% and 39.4% or 10.6% and 19.7%, respectively. Mean BMD z-scores were (-1.26) ± 1.12 [(-4.3)-2.0] and (-0.48) ± 1.25 [(-3.30)-3.40] at first and second evaluations, respectively. BMD findings obtained at second evaluation revealed statistically significant recovery compared with those obtained at first evaluation (P = .001). BMD z-scores were significantly lower in patients who received, as opposed to those who did not receive, radiotherapy (RT) at both evaluations. Anthropometric parameters of patients such as height, weight, and body mass index (BMI) were increased at both evaluations compared with values obtained at diagnosis (P < .05). Height standard deviation score (SDS) decreased at first evaluation compared with that measured at diagnosis, whereas it increased at second evaluation. Conversely, weight SDS and BMI SDS increased (P < .05) at first evaluation compared with that measured at diagnosis, whereas they decreased at second evaluation. The authors conclude that early impairments in anthropometric measurements recover in the long term, whereas BMD is continually reduced in children who recovered from cancer.

Comparison of plasmapheresis with medical apheresis in terms of efficacy and cost in the acute treatment of hypertriglyceridemia in children with lipoprotein lipase deficiency.

OBJECTIVES: We aimed to compare plasmapheresis and medical apheresis as lipid-lowering therapies in children with familial lipoprotein lipase (LPL) deficiency. METHODS: The data of 13 patients who were followed up after a diagnosis of LPL deficiency were retrospectively analyzed. Plasma triglyceride, cholesterol, amylase, and lipase values and complications were recorded before and after each patient underwent plasmapheresis or medical apheresis. RESULTS: The mean follow-up period of the patients was 99.64 ± 52.92 months in the medical apheresis group and 118 ± 16.97 months in the plasmapheresis group. While the mean triglyceride level before plasmapheresis was 1,875.38 ± 547.46 mg/dL, it was 617 ± 228.28 mg/dL after plasmapheresis. While the mean triglyceride level before medical apheresis was 1,756.86 ± 749.27 mg/dL, it was found to be 623.03 ± 51.36 mg/dL after medical apheresis. Triglyceride levels were decreased by 59.62% with medical apheresis and 65.57% with plasmapheresis. The cost of treatment for medical apheresis was found to be lower compared to plasmapheresis 296.93 ± 29.94 Turkish lira (USD 43.34 ± 4.01) vs. 3,845.42 ± 156.17 Turkish lira (USD 561.37 ± 20.93; p<0.001). CONCLUSIONS: Although there is no standardized strategy for the acute treatment of hypertriglyceridemia due to LPL deficiency, medical apheresis is a safe and effective treatment with a low risk of side effects. Unlike plasmapheresis, medical apheresis can be performed in any center, which is another important advantage of the procedure.

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.

OBJECTIVE: Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. DESIGN: Because consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inheritance and allows firmer correlations to be established between genotype and phenotype, we planned to execute our study in consanguineous families. PATIENTS: Hundred and thirty-nine children with CHNG phenotype born to consanguineous families. MEASUREMENTS: First, we investigated cases for evidence of linkage to the four known CHNG genes by microsatellite marker analysis. Mutation analysis by direct sequencing was then performed in those cases in whom linkage to the relevant candidate gene could not be excluded. In addition, in silico analysis of the predicted structural effects of TSHR mutations was performed and related to the mutation-specific disease phenotype. RESULTS: Homozygous germline TSHR mutations were detected in six families (5%), but no mutations were detected in PAX8, TSHB and NKX2-5. Four of TSHR mutations had not previously been described. Genotype-phenotype correlations were established and found to be related to the predicted structural effects of the mutations. CONCLUSIONS: Known causative genes account for the development of CHNG only in a minority of cases, and our cohort should provide a powerful resource to identify novel causative genes and to delineate the extent of locus heterogeneity in autosomal recessively inherited CHNG.

Assessment of bone mineral density and risk factors in children completing treatment for acute lymphoblastic leukemia.

BACKGROUND: Reduced bone mineral density and increased fracture risk have been reported in children with cancer. In this study, we aimed to determine the growth and bone mineral density (BMD) of the children off chemotherapy for acute lymphoblastic leukemia, and the probable risk factors. PROCEDURE: The age, anthropometric measurements, lumbar spine BMDs were recorded in 70 children. The risk factors on BMD; daily calcium intake, the time interval from the completion of the chemotherapy, cranial radiotherapy, cumulative steroid dose, decrease in physical activity were investigated. Serum calcium, phosphate, alkaline phosphates, magnesium, insulin-like growth factor-1 (IGF-1) and 25 (OH) vitamin D levels were determined. RESULTS: The mean height percentile at the time of diagnosis was decreased from the value of 53 to a value of 47 at the beginning of the study (P=0.071). Of them; 44% had osteoporosis, 41% had osteopenia, and the rest had normal BMD. BMD z-scores were decreased during the first 2 years from the completion of the treatment. There was a positive correlation between BMD z-scores and daily calcium intake (CC=0.366, P=0.0015). A negative correlation was determined between the time spent on TV and computers and BMD z-scores (CC=-0.464, P=0.0019). Serum IGF-1 and 25 (OH) vitamin D levels of patients were significantly lower than controls (P=0.033). CONCLUSIONS: Our data revealed that 85% of the survivors had bone mineralization defect. BMDs and z scores were decreased during the first 2 years from the completion of the treatment and then gradually began to increase. The most important risk factor for decreased BMD was low daily calcium intake. Therefore, patients and their families should be encouraged to take sufficient amount of calcium. Prophylactic vitamin D may also be supplemented.

Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey

Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6%, macroadenomas in 27%, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4%. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n=206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n=27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/mL, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3% were treated with cabergoline and 13.4% with bromocriptine. 20.1% of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised.

Evaluation of diagnosis and treatment results in children with Graves' disease with emphasis on the pubertal status of patients.

This retrospective study evaluated the clinical and laboratory characteristics at presentation and treatment results of patients with Graves' disease (GD) with respect to pubertal status. Records of 143 patients (108 F, 35 M) were reviewed in a multicenter study. At diagnosis, 38% of patients were prepubertal. Anti-thyroid drugs (ATD) were used as initial therapy. There was no significant difference in clinical and laboratory characteristics at diagnosis, during treatment and adverse reaction to ATD with respect to pubertal status. Twenty patients (7 prepubertal, 13 pubertal) reached remission on ATD. Surgery was performed in seven and radioiodine (RAI) in four patients. Duration of treatment needed to achieve remission was longer in prepubertal (4.2 +/- 1.0 yr) than in pubertal patients (3.1 +/- 1.3 yr) (p = 0.02). The rate of remission was not different between prepubertal (25.9%) and pubertal patients (33.3%) (p = 0.59). ATD were associated with low remission rate in pediatric GD and required longer duration of therapy in prepubertal patients. For definitive treatment in older children, RAI could be evaluated as the initial therapy.

Hyperprostaglandin E syndrome: use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis.

Hyperprostaglandin E syndrome (HPS) is the antenatal variant of Bartter syndrome and characterized by polyhydramnios and preterm delivery in the antenatal period and salt-wasting, isosthenuric or hyposthenuric polyuria, hypercalciuria and nephrocalcinosis in the postnatal period. We report a one-month-old infant with HPS with a 15-year-old sister with Bartter syndrome. The infant's birth weight was 2750 g and she had severe dehydration on the 2nd day of life. She had hypercalcemia, hyponatremia, hypokalemia, metabolic alkalosis and elevated plasma renin and aldosterone levels. We instituted indomethacin therapy accompanied by steroid therapy for hypercalcemia. However, the patient developed abdominal distention on the 30th day, which was due to diffuse pneumatosis in sigmoid colon revealed by a subsequent surgical intervention. Following surgery, the patient developed fever, electrolyte abnormalities and subsequently sepsis. The patient died due to sepsis 10 days after surgery. We conclude that indomethacin and steroid therapy must be used cautiously in infants with HPS.

Use of complementary and alternative medicine in patients with inherited metabolic disease.

Background There are no studies on the use of complementary and alternative medicine (CAM) therapies in subjects with inherited metabolic disease (IMD) in the current literature. This study aimed to determine the type, frequency of and reasons for the use, and factors associated with the use of CAM therapies. Methods Subjects included in this study consisted of 335 children (95.7%) and 15 (4.3%) adults with a median age of 5.66±6.16 (0.08-48) years with inherited metabolic disease. A single physician conducted face-to-face interviews with the mother and/or father for pediatric subjects and with the subjects themselves for adults of a normal intelligence. Data were obtained from responses to the questions in the standard survey form. Results Our study included 350 patients in total, of whom 164 (46.9%) were female and 186 (53.1%) male. We found that 144 of the patients (41.1%) had used at least one CAM therapy method. The highest rate of use among the CAM therapy methods was of the mind-body approach therapies (n=98, 28%). This was followed by biologically-based (n=75, 21.4%) and manipulative and body-based (n=5, 1.4%) therapies, respectively. The most commonly used herbal product was herbal tea (n=21, 6%), and the most commonly used dietary supplementation was a royal jelly and pollen mixture (n=9, 2.6%). Significant differences in the subjects' age, their follow-up duration, their mother's and father's ages, and CAM therapy use were identified from sociodemographic data. Conclusions In our study, the use of CAM therapies was determined at a high rate. This is important when dealing with clinical problems and for clinicians who follow-up with IMD subjects and suspect they may be using CAM therapy.

Outcomes of mitochondrial derived diseases: a single-center experience.

BACKGROUND: The purpose of this study is to help elucidate which part of the mitochondria is causing a problem through anamnesis, physical examination, and routine biochemical tests in the event of a suspected mitochondrial disease case. METHODS: The data were obtained retrospectively from the medical records of 75 cases; the mitochondrial-derived disease (MDD) cases were observed in our center from 2011 to 2017. RESULTS: The most commonly observed MDDs were oxidative phosphorylation disorders at 44%, followed by fatty acid oxidation disorder at 40%, pyruvate metabolism disorder at 12%, and ketone metabolism disorder at 4%, respectively. The most common clinical presentation at the time of referral to the hospital was metabolic acidosis (20%), and the most common symptom was respiratory distress (24%). There were abnormal findings in 84.3% of the cases subjected to cranial magnetic resonance imaging (MRI), with the most common being hyperintensity in the bilateral basal ganglia (49.0%). CONCLUSIONS: Anamnesis, physical examination, and simple laboratory data could provide some important clues in assessing MDD. Blood gas should definitely be measured in cases with respiratory symptoms, particularly if they have a history of consanguineous marriage or a sibling suffering from a similar disease. If metabolic acidosis exists in the blood gas, MDDs should absolutely be included in the differential diagnosis. Furthermore, ophthalmic and cardiac assessment and cranial MRI will also reveal significant data for diagnosing MDDs.