Introduction: It is known that obesity itself is a risk factor for atherosclerosis. Dyslipidemia, insulin resistance and the deficiency of the adiponectin (ADPN), which is an adipocytokine increasing the insulin sensitivity, are the main factors known for their relations with the obesity and atherosclerosis. This study aimed to determine the levels of plasma ADPN in obese children and its relationship with several other factors associated with atherosclerosis. Materials and Method: Plasma levels of ADPN, plasminogen activator inhbitor-1 (PAI-1), lipids and insulin and blood hemoglobin A1c (HbA1c) levels were measured and their relations with each other were determined in 30 obese and 28 healthy children. Oral glucose tolerance test (OGTT) was performed to obese children and ADPN and PAI-1 levels were rechecked at the second hour of OGTT. Results: In obese children, the basal ADPN and PAI-1 levels were lower, than their levels obtained 2 hours after the OGTT. Basal ADPN levels showed negative correlation with the body mass index, and triglyceride, very low density lipoprotein (VLDL) and insulin levels. Negative correlation was also detected between the postprandial PAI-1 and high density lipoprotein (HDL), and between plasma ADPN and insulin and triglyceride levels. While the changes in triglyceride and insulin levels negatively affected the ADPN, the changes in HbA1c affected ADPN positively. Conclusion: Our study indicates that, plasma ADPN level can be used as a follow up marker for atherosclerosis.

Fabry disease results from deficiency of the lysosomal enzyme alpha-galactosidase A. The families of 11 index cases were screened by enzyme and molecular assays. Further clinical and laboratory investigations were carried out in all cases. Including 33 new patients, a total of 28 females (Age 25,82 +/- 12,1 Range 8-46) and 16 males (Age 24,56 +/- 15,04 Range 2-48) were investigated. Ten different disease-causing variants were found two of them being novel. One patient had co-existing familial mediteranian fever, one had celiac disease and three had rheumatological disorders. Lipoprotein (a) levels were elevated in 17,6%, homocysteine in 22,2%, total and low density cholesterol in 12% and antithrombin 3 levels were elevated in 13,3%. One patient was found to be heterozygous for prothrombin p.G20210A disease-causing variant (5,8%) and two for factor V Leiden disease causing variant (11,7%). Anticardiolipin IgM antibody was found to be positive in 11,7%. The patients with abnormal cranial imaging were also noticed to have additional risk factors for thrombosis. This study provides the largest data about Fabry patients from Turkey and implies that co-existing risk factors unrelated to Fabry Disease have significant association with the presence of clinical symptoms in females and might cause an early and severe clinical course in males.

Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages are performed. Isovaleric aciduria is an organic aciduria characterized by abnormal leucine metabolism resulting from a deficiency in the enzyme isovaleryl-CoA dehydrogenase. Niemann-Pick disease Type C is a rare autosomal recessive inherited disorder involving the intracellular transport of endocytosed cholesterol with sequestration of unesterified cholesterol in lysosomes and late endosomes. Both of these disorders are rarely encountered inborn errors of metabolism. We report a case of a boy with marked jaundice and hapatosplenomegaly, who was later diagnosed as isovaleric aciduria and Niemann-Pick disease Type C concomitantly. The diagnoses were proven by genetic analyses. A novel mutation for Niemann-Pick Type C has also been defined in this case report.

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase. Cardiovascular involvement in MPS I includes deposition of glycosaminoglycans (GAGs) in the myocardium, cardiac valves, great vessels, and coronary arteries. Although the vascular effects of GAG accumulation are well known, the clinical effects of the histopathological changes are poorly understood. Because most studies on the vascular effects of GAG accumulation are performed postmortem or with invasive techniques such as angiography, recent studies have focused on endothelial function in patients with MPS I and noninvasive techniques that may help detect vascular dysfunction. Presently described is the case of a patient with MPS type I with acute stroke and proven endothelial dysfunction.

Subclinical micronutrient deficiencies have been gradually becoming more important as a public health problem and drawing attention of the health authorities. Today it has been known that detecting and treating people having deficiency symptoms alone is no longer sufficient. It is important to detect and prevent any deficiency before it displays clinical manifestations. Zinc deficiency is one of the most widespread micronutrient deficiencies. In this study, we aimed to evaluate the zinc status and the associated factors in healthy school-age children.

Dear Editor, Propionic acidemia is one of the intoxication type organic acidemias, which often present in the neonatal period with lethargy, feeding difficulties, hypotonia, vomiting and coma if not identified and treated appropriately. Patients with propionic acidemia can decompensate during periods of increased metabolic demand (1, 2). Hemophagocytic lymphohistiocytosis (HLH) is a life threatening disorder that can rapidly deteriorate and lead to multiple organ failure and death. It can be classified as primary (familial) or secondary (acquired) (3, 4). Secondary HLH is associated with infections especially viral, malignant disorders, inborn errors of metabolism such as multiple sulphatase deficiency, lysinuric protein intolerance, biotinidase deficiency, Gaucher disease and galactosialidosis (5-8) In this report, we present a case of a 3 year old boy with propionic acidemia who experienced secondary HLH during his metabolic attack and was successfully treated with intravenous gammaglobulin, broad spectrum antibiotics and dexamethasone therapy. A 3-year-old boy who had been followed up with the diagnosis of propionic acidemia from the neonatal period presented with respiratory distress, somnolance, fever and diarrhea to pediatric metabolic unit. His parents were first degree cousins. Carboxylase activities in cultured fibroblasts confirmed the diagnosis of isolated propionyl COA carboxylase deficiency. He had been admitted to hospital several times due to metabolic attacks. On his last admission, body temprature was 39°C. He was tachypneic and tachycardic and capillary refilling time was longer than normal. Skin turgor and tonus were decreased. He was dehydrated. He was not oriented and did not cooperate but was able to localize the painful stimuli. During the follow up in intensive care unit, his consciousness deteriorated progressively, and he was intubated. Serum ammonia level was elevated (280, normal range 31 - 123 µg/dL) and hyper-ammonemia responded dramatically to a single dose of oral carglumic acid. Over the following 6 hours, the plasma ammonia level dropped to 81 µg/dl and remained normal thereafter. Serum uric acid level was 9.4 mg/dL. Complete blood count revealed hemoglobin 12.7 g/dL, leucocyte count 3.1 × 109/L and platelets 96 × 109/L. Blood gas analysis showed pH: 7.52, pCO2 10.8 and HCO3 8.7 mmol/L. Plasma lactate was 6,77 mmol/L. Urine was positive for ketones. He was put on broad spectrum antibiotic treatment after several sets of cultures were taken. On the third day of admission, pancytopenia was prominent with hemoglobin 8.2 g/dL, leucocyte 2.1 × 109/L, and platelet count 4 × 109/L. The peripheral smear showed leukopenia, normocytic normochromic anemia, and thrombocytopenia. Serum ferritin level was 1753 ng/mL. Although he was not on parenteral nutrition, serum triglyceride level was > 1420 mg/dL. Plasma fibrinogen level was 87 mg/dL (normal range 160 - 400 mg/dL). Lactate dehydrogenase level was 1376 IU/L. With the diagnosis of secondary HLH, bone marrow aspiration was performed. On light microscopic examination of bone marrow aspirate, increased histiocytes, lipid laden macrophages, and prominent hemophagocytosis were observed. Viral testing was negative. Based on diagnostic criteria, our patient fulfilled 5 of the 8 criteria and was diagnosed as HLH. Intravenous gamma globulin was given immediately and dexamethasone added to treatment as ordered in the treatment protocol for Hemophagocytic Lymphohistiocytosis (HLH-2004) (Figures 1 - ​-33). Figure 1. Shows the White Blood Cell Count Levels Variation With the Treatment Protocol Figure 3. Shows the Hemoglobin Levels Variation With the Treatment Protocol He became better in terms of clinical picture and laboratory findings. Fever decreased strikingly. The blood count normalized day by day. We tapered the steroid dose according to HLH 2004 protocol. Two months after the beginning of HLH 2004 protocol, dexamethasone dosage was decreased. Now he is on regular outpatient clinic visits for propionic acidemia and had no relapse during follow up. Hemophagocytic lymphohistiocytosis is a potentially fatal hyperinflammatory condition caused by a highly stimulated but ineffective immune response. HLH can be classified according to the underlying etiology into either primary or secondary. HLH may also occur as a secondary disorder in association with severe infections, malignancies, rheumatologic disorders and some metabolic diseases (1). The mechanism is not clear how the metabolites trigger HLH in inborn errors of metabolism. The HLH-2004 diagnostic criteria suggests that to make a diagnosis of HLH, five of the following criteria are required: 1) fever for 7 days, 2) Splenomegaly, 3) unexplained progressive cytopenia of two or more of three lineages: ANC 265 mg/dL or hypofibrinogen-emia, 5) hyperferritinemia > 500 µg/L, 6) increased soluble CD25 > 2400 U/mL, 7) reduction of natural killer cell activity and 8) pathology showing hemophagocytosis (2). Our patient met five of the eight criteria: fever, cytopenia, hypertriglyceridemia, hypofibrinogenemia, elevated ferritin, and pathology showing hemphagocytosis. No infectious agent was demonstrated from multiple cultures and by serological evaluations. Our patient did respond to dexamathasone and intravenous gammaglobulin therapy. Removal of cytokines with plasma exchange can help to maintain patients until other therapies have a chance to work. Plasma exchange could not be done effectively in our center. However we recommend initiation of the treatment with steroid and immune globulin and if the HLH cannot be taken under control, other drugs such as etoposide and cyclosporin A should be added to the therapeutic regimen. Also in resistant secondary HLH cases, plasma exchange may be considered in terms of removing cytokines and toxins from circulation if available (3, 4). In conclusion this experience suggests that steroid and immune globulin could be considered as a first line therapy in patients with secondary HLH associated by metabolic diseases. Of course, awareness of the clinical symptoms and diagnostic criteria for hemophagocytic syndrome is crucial to start timely lifesaving therapy. The efficacy of therapeutic measures and prognosis depends on degree of hypercytokinemia-associated organ failure at disease onset and underlying disorders. Figure 2. Shows the Platelet Levels Variation With the Treatment Protocol

Osteopetrosis is a rare genetic condition of reduced osteoclastic bone resorption which causes defective bone remodeling and skeletal sclerosis during growth, having effects on many organs and tissues. Mutation of T-cell immune regulator 1 (TCRG1) gene is the most common genetic defect leading to osteopetrosis, with poor prognosis. The autosomal recessive form presents in the infantile period (also known as malignant infantile osteopetrosis--MIOP), and is characterized by fractures, short stature, hepatosplenomegaly, compressive neuropathies, hypocalcemia and pancytopenia. Being a rare disease with non-specific clinical manifestations, the diagnosis is difficult and usually delayed. Rickets is a characteristic feature of MIOP which results from the defect in osteoclasts to provide a normal Ca/P balance resulting in the poor mineralization of the osteoid. Various treatment options have been suggested for osteopetrosis, but hematopoietic stem cell transplantation still remains the only curative treatment option presently. The authors report the case of a 46-day-old girl with late-onset neonatal hypocalcemia and rickets that was later diagnosed as osteopetrosis. This case report emphasizes that infantile osteopetrosis is an important cause of neonatal hypocalcemia. As irreversible complications develop within the first months of life, immediate diagnosis and early intervention are crucial and may be life-saving.

Hypodontia is defined as the congenital missing of one or more teeth in one or both dentition periods. In this case report, ketone utilization disorder with oro-dental findings was reported which was previously not reported in the literature. It was concluded that dental examination is an important parameter which must be taken into consideration in the future case reports.

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases first reported in 1980 (11). They are caused by deficient glycosylation of glycoconjugates, such as N-linked glycoproteins, O-linked glycoproteinsand glycolipids. Some 60 CDG are actually known. Phosphoglucomutase 1 deficiency, first reported in 1963 (11), has only recently been identified as a CDG with a remarkably broad clinical presentation (5,8,12,13). We report on another patient with this CDG.A 19-months-old girl was admitted for evaluation of feeding difficulties and recurrent hypoglycemia that occurred almost every month. She was the third child of consanguineous healthy parents. There was no family history of similar symptoms. She showed a short stature, prominent forehead, small face, depressed nasal bridge, unilateral-median cleft palate/bifid uvula and hepatomegaly 5 cm below the costal margin. Her weight was 7.1 kg (SDS: -3), height was 66 cm (SDS: -3.97). Psychomotor development and neurological examination were normal. There was epiphora due to lacrimal duct obstruction. Routine laboratory investigations showed normal blood count, routine urine analysis and serum creatinine, total lipids, total LDL- and HDL-cholesterol, ammonia, creatine phosphokinase, acylcamitines, amino acids, thyroid hormones, biotinidase activity and urine organic acids and sugar chromatography. Serum transaminases were increased [AST: 291U/L, ALT: 109U/L (ni: 0-40)]. Ultrasonographic examination showed enlarged liver size with normal echogenity. Echocardiography and brain (including hypophysis) magnetic resonance imaging were normal. During follow-up hypoinsulinemic hypoglycemia (39 mg/dl) was detected with increased serum cortisol, adrenocorticotropic hormone, growth hormone, and normal metabolic screening tests (urine glucose and organic acids, and serum lactic acid, ammonia, bicarbonate, amino acids and acylcamitine levels. Serum insulin like growth factor 1 (IGF1) was low 16.15 ng/ml (nl: 55-110), but showed a normal response to growth hormone. Insulin like growth factor binding protein 3 (IGFBP3) was 578 ng/ml (nl: 2450-3500). Growth hormone therapy was nevertheless started but hypoglycemia attacks continued and therefore this therapy was stopped. Serum thyroxine binding globuline was low [5 pcg/ml (29-54)]. Partial thromboplastin time was 41.8 (nl: 18-28) and prothrombin time was 19.3 seconds (nl: 10-14) factor X 45 % (50-150), factor VII 15.8 % (50-150), FXI15 % (50-150), antithrombin III 10 % (80-120), protein C 5 %(70-130), and protein S 8 % (65-140). On follow-up, cardiomyopathy developed and serum was found increased.Serum transferrin IEF showed a type 2 pattern. On MALDI-TOF analysis of serum transferin there was an aglycan and a monoglycan transferin species besides the normal diglycan transferin. On the basis of these results and clinical features, mutation analysis of the PGM1 gene was performed by direct sequencing of this 11 exons. A homozygous mutation was found: c.551delT (p.F184Sfs*9) and the parents were heterozygous for this mutation.Phosphoglucomutase (PGM) comprises three isoenzymes with different tissue distribution (PGM1, PGM2 and PGM3). PGM1 is expressed ubiquitously and accounts for 80-90 % of the total PGM activity in most tissues (4,7). It catalyses the bidirectional interconversion of glucose 1-phosphate and glucose 6-phosphate, and is thus on the crossroad between glycolysis/glucose production and glycogen metabolism/ UDP-galactose synthesis.PGM1 deficiency has first been reported half a century ago (11). Since then a few patients have been described including, in 2009, an adult with exercise-induced muscle cramps, episodic rhabdomyolysis, and muscular glycogen storage ('glycogenesis XIV') (5,8,12,13). Only in 2012, the full clinical presentation of PGM 1 deficiency was recognized comprising bifid uvula/cleft palate, hepatophy with decreased coagulation factors, growth retardation (with normal or increased growth hormone levels), myopathy, dilated cardiomyopathy, hypoglycemia, and, less frequently, low serum TSH, ACTH and hypogonadotrophic hypogonadism (5). …

Aim: Coronary heart disease is one of the most common causes of death around the world. The pathological process of coronary heart disease like atherosclerosis starts in childhood. During this period thrombosis constitutes a high-risk factor. In this study, we investigated the effect of soluble CD40 ligand (sCD40L) and clotting activation on children and adolescents with hypercholesterolemia. Materials and Methods: Plasma levels of sCD40L, P-selectin, 8-hydroxy-2-deoxyguanosine (8-OHdG), and prothrombin fragment 1+2 [(F) 1+2] were determined in thirty-five hypercholesterolemic patients (20 girls and 15 boys; age, median: 13 years) and forty healthy normocholesterolemic subjects (28 girls and 12 boys; age, median: 13 years). Results: No significant differences were observed between the patient group and controls in terms of age, high-density lipoprotein (HDL) cholesterol, 8-OHdG, F1+2 (p>0.05). However, there were significant differences between the two groups with respect to total cholesterol, low-density lipoprotein (LDL) cholesterol, very LDL cholesterol, triglycerides, sCD40L and P-selectin (p<0.05), which were higher in the patient group than the controls. A positive correlation was observed between sCD40L and P-selectin (p<0.05) in accordance with the Spearman correlation analysis. The correlation coefficients were 0.735 in the patient group and 0.647 in the control group. But there was no significant correlation between sCD40L and total cholesterol, LDL-cholesterol, HDL-cholesterol, very LDL-cholesterol, triglycerides, 8-OHdG, F1+2 (p>0.05). Conclusion: We believe that future prospective studies to determine the increase in the level of sCD40L with a larger sample size of a pediatric population with dyslipidemias may be more helpful in predicting the risk of cardiovascular disease.

GRACILE syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload, profound lactic acidosis, and early death. It is caused by homozygosity for a missense mutation in the BCS1L gene. The BCS1L gene encodes a chaperone responsible for assembly of respiratory chain complex III. Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome. This genotype is associated with a severe clinical presentation. So far no available treatments have changed the fatal course of the disease, and the metabolic disturbance responsible is still not clearly identified. Therefore, providing prenatal diagnosis in families with previous affected infants is of major importance. Mitochondrial disorders are an extremely heterogeneous group of diseases sharing, in common, the fact that they all ultimately impair the function of the mitochondrial respiratory chain. A clinical picture with fetal growth restriction, postnatal lactacidosis, aminoaciduria, hypoglycemia, coagulopathy, elevated liver enzymes, and cholestasis should direct investigations on mitochondrial disorder.

BACKGROUND:Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by the deficiency of hydrolases involved in the degradative pathway of glycosaminoglycans. In MPS, upper airway obstruction may result from multiple causative factors which may impact severely upon morbidity and mortality.METHODS:We evaluated upper airway obstructive disease and related clinical findings through home sleep study in 19 patients (11 with MPS VI, 4 with MPS I, 4 with MPS II) with MPS followed at Gazi University Pediatric Metabolic Unit. Patients underwent home-based sleep measurements, and sleep respiratory problems were asked in a detailed clinical history. Measurements of apnea, apnea-hypopnea index (AHI), hypopnea index, oxygen desaturation index, and minimal oxygen saturation were obtained through home sleep study.RESULTS:For 19 children, the disorder was normal in 1, mild (AHI=1.5-5/h) in 5, moderate (AHI=5-10/h) in 2, and severe (AHI>10/h) in 11. The prevalence of OSA was 94.7 % (18/19) in patients with MPS. Snoring, witnessed apnea, pectus carinatum, and macroglossia were the main clinical findings. Echocardiograms showed evidence of pulmonary hypertension in 13 patients.CONCLUSION:Home sleep study is a quick and accessible screening test to determine the abnormalities of breathing during sleep and enables clinicians to take necessary action for patients with severe manifestations.

Early diagnosis for metabolic encephalopathy caused by inborn errors of metabolism is very important for the initiation of early treatment and also for prevention of sequela. Metabolic encephalopathy in the form of seizures can result from many inborn errors of metabolism and considering the large number of disorders causing metabolic encephalopathy, enzyme assays or conventional molecular tests are expensive and take considerably long period of time which results in delayed treatment. In our center we have used next generation DNA sequencing technology as an initial diagnostic test to look for about 700 disorders at the same time for the etiologic diagnosis of a 4-month-old female infant suffering from intractable seizures. The patient was found to have glycine encephalopathy resulting from a previously defined mutation in the GLDC gene. The diagnostic result was obtained much sooner than other conventional investigations. Up to our knowledge, this would be the first case with glycine encephalopathy in the literature who was approached by this novel panel method initially. Although currently, classical evaluation methods such as physical examination, biochemical and conventional molecular investigations are still accepted as the gold standards to clarify the etiology of the metabolic encephalopathy it is obvious that next generation sequence analysis will play a very significant role in the future.

We aimed to investigate the diagnostic utility of serum DPP-IV enzyme activity, urinary GAG/Cre ratio, chitotriosidase activity, total adenosine deaminase (ADA) and ADA-1 isoenzyme activity in the diagnosis of MPS. 31 MPS patients which were previously diagnosed by clinical and enzymatic analysis and 31 healthy controls matched with age and gender were included in this study. Serum DPP-IV enzyme activity, urinary GAG/Cre ratio, total ADA and ADA-1 isoenzyme activity were significantly higher in patients than in controls (p<0.001, p<0.001, p=0.038 and p=0.006, respectively). There were significant correlations between serum DPP-IV enzyme activity and urinary GAG/Cre ratios, ADA-1 activity, ADA-1/total ADA (r=0.498, p<0.001; r=0.348, p=0.006; r=0.270, p=0.034, respectively). Area under ROC curve for DPP-IV enzyme activity was 0.988, p<0.001 and for urinary GAG/Cre ratio was 0.986, p<0.001. DPP-IV enzyme activity and urinary GAG/Cre ratio were the most significant parameters according to the univariate logistic regression analysis (p=0.001 and p<0.001, respectively). The measurement of serum DPP-IV enzyme activity can be used complementary to the urinary GAG/Cre ratio for first-line MPS screening, since it is more less prone to age and hydration related interferences.

Aim: To describe the characteristics of patients with type I glycogenosis, the presentation types, the main clinical and laboratory signs, and also the disease outcomes on long term follow-up.Material and Method: 30 patients with glycogen storage disease type I who followed up our clinic were included in these study. The mean age of the patients was 12 similar to 24 months (5 month-20 years), and 16 patients were male and 14 were female. Twenty-seven patients were type Ia and three patients were type Ib glycogenosis.Results: The main complaints were acidotic breathing (93.3%), abdominal protruding (83.3%), and main physical finding was hepatomegaly (100%) on admission. Among laboratory parameters, hypoglycemia, increased transaminase values, hypertriglyceridemia, lactic acidosis, hyperuricemia were the most frequent findings. Short stature, osteoporosis, microalbuminuria, proteinuria and liver adenoma were determined in 50%, 20%, 16.7%, 55.6%, 6.92% of patients after the evaluation of patients in terms of long term complications respectively.Conclusions: Glycogen storage disease type I is a rare condition, but with possible life-threatening consequences. It has to be kept in mind whenever severe hepatomegaly and/or hypoglycemia are present. Glycogen storage disease type l causes severe complications unless it is not treated appropriately. Early diagnosis and good metabolic control with dietary therapy may prevent these complications and increase life quality of the patients.

Aim: To describe the characteristics of patients with type I glycogenosis, the presentation types, the main clinical and laboratory signs, and also the disease outcomes on long term follow-up.Material and Method: 30 patients with glycogen storage disease type I who followed up our clinic were included in these study.The mean age of the patients was 12±24 months (5 month-20 years), and 16 patients were male and 14 were female.Twenty-seven patients were type Ia and three patients were type Ib glycogenosis.Results: The main complaints were acidotic breathing (93.3%), abdominal protruding (83.3%), and main physical finding was hepatomegaly (100%) on admission.Among laboratory parameters, hypoglycemia, increased transaminase values, hypertriglyceridemia, lactic acidosis, hyperuricemia were the most frequent findings.Short stature, osteoporosis, microalbuminuria, proteinuria and liver adenoma were determined in 50%, 20%, 16.7%, 55.6%, 6.92% of patients after the evaluation of patients in terms of long term complications respectively.Conclusions: Glycogen storage disease type I is a rare condition, but with possible life-threatening consequences.It has to be kept in mind whenever severe hepatomegaly and/or hypoglycemia are present.Glycogen storage disease type l causes severe complications unless it is not treated appropriately.Early diagnosis and good metabolic control with dietary therapy may prevent these complications and increase life quality of the patients.(

OMD (osteosclerotic metaphyseal dysplasia) is a very rare sclerosing bone disorder, first described by G. Nishimura in two Japanese siblings in 1993 (6). We report the case of a 12-month-old male with hypotonia, developmental delay and sclerosis of the metaphyses and epiphyses of specific bones. This 36-week gestation boy was born to a 26 year old gravida 5 para 1 Turkish mother and a 27 year old nonconsanguineous father. Radiographic findings obtained during the hospital stay included bilateral symmetrical osteosclerosis of the metaphyseal portions of the long bones in the upper and lower extremities with osteopenic shafts. Narrow bands of metaphyseal osteosclerosis were detected in the short tubular bones of the hands and feet. Growing parts of bilateral scapula, iliac, pubic and ischial bones show sclerotic bands. In addition superior and inferior plates of vertebras, transverse processes of sacral vertebras, all visible epiphyses, carpal and tarsal bones also show sclerotic changes. The scalp was unaffected. Based on the clinical, radiographic, and laboratory findings, a diagnosis of OMD was made. We do not know any of the osteosclerotic bone disorder with changes including hypotonia, mental and motor developmental delay and metaphyseal sclerosis of the bones with a unique distribution except OMD. The syndrome is characterized by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia 18 years ago. Our patient is the 4th case of OMD described in the literature share some clinical and radiological similarities with other three reported cases of osteosclerotic metaphyseal dysplasias.