Mehmet Serif Cansever

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

Fucosidosis is a rare lysosomal storage disease with clinical presentation of developmental retardation, coarse facial features, hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Here, a 7-year-old female patient with progressive dystonic movement disorder and loss of acquired motor skills is presented. Coarse facial feature and abnormal globuspallidus signaling in brain magnetic resonance imaging (MRI) led the patient to be investigated in terms of fucosidosis despite absence of hepatosplenomegaly, dysostosis multiplex, and angiokeratomas. Markedly decreased enzyme activity of alpha-fucosidosis led to the correct diagnosis. Conclusion: Various neurological findings have recently been reported in fucosidosis. However, neuroimaging findings have not been studied in detail except a few studies. It is critically important to discuss the wide neuroradiological spectrum of the disease and to highlight fucosidosis in differential diagnosis of bilateral pallidalhypointensity on T2-weighted images in brain MRI. In addition, description of atypical clinical findings of fucosidosis should avoid clinicians from diagnostic delay.

Screening Mucopolysaccharidosis Type IX in Patients with Juvenile Idiopathic Arthritis

Mucopolysaccharidosis is a group of lysosomal disorders of a deficiency of specific enzyme required for glycosaminoglycan degradation. Mucopolysaccharidosis type IX is the rarest form of mucopolysaccharidosis. To date, only four patients have been reported. The first reported patient had mild short stature and periarticular soft tissue masses; the other reported patients are clinically indistinguishable from juvenile idiopathic arthritis. In the present study, we screened mucopolysaccharidosis type IX among patients with juvenile idiopathic arthritis with hyaluronidase enzyme assay. One hundred and eight patients with JIA and 50 healthy age-matched control subjects were enrolled in the study. Among all patients, none had deficient hyaluronidase activity. Though serum Hyal-1 activity was significantly increased in JIA patients, compared with control subjects (p < 0.000), no correlation was found between CRP, ESR, and Hyal-1 activity (p = 0.187). In conclusion, the data reported in our study indicates that systemic metabolic investigation for hyaluronidase activity is not recommended in all patients with JIA.

Neonatal nonketotic hyperglycinemia: diffusion-weighted magnetic resonance imaging and diagnostic clues.

Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder, which is caused by a defect in the glycine cleavage system. Characteristic findings of this metabolic encephalopathy include generalized hypotonia, seizures, apneic attacks, lethargy, and coma. In this paper, we present the case of a 3-month-old male patient with NKH who presented with atypical clinical features in whom suggestive magnetic resonance imaging (MRI) findings lead to the correct diagnosis. A 3-month-old male patient was admitted to our pediatric nutrition and metabolism unit with complaint of generalized hypotonia. He was the first child of consanguineous parents and his prenatal, natal, and postnatal history was uneventful. He had no history of seizures. Feeding difficulty was noted. His physical examination revealed generalized hypotonia. He had spontaneous eye opening but during the examination, it was observed that he was not aware of his environment. He had no head control. Hematological and biochemical investigations including liver function and muscle specific enzymes, electrolyte levels, and renal functions were found normal. Acylcarnitine profile and urinary organic acid analysis were unremarkable. Plasma lactate and ammonia levels were in normal ranges. Brain diffusion-weighted MRI imaging revealed bilateral symmetrical diffusion restriction in the corona radiata, the posterior limb of the internal capsule and ventral brainstem corresponding to the course of the corticospinal tract, which was suggestive for the diagnosis of NKH (Fig. 1). Despite the absence of seizures, which is an important clinical finding in NKH, the disease was considered in the differential diagnosis based on MRI imaging and the existence of an altered level of consciousness. Plasma and cerebrospinal fluid (CSF) amino acid analyses were performed for definite diagnosis, and both plasma and CSF glycine levels were found remarkably elevated (890 and 131.3 lmol/L, respectively) with a typically high CSF-to-plasma glycine ratio (0,14). Definite diagnosis of NKH was based on characteristic biochemical findings. Although he had not an obvious sign of seizure, electroencephalography was performed and hypsarrhythmia pattern, which was compatible with the disease, was detected. Dextrometorphan and sodium benzoate therapies were started once the diagnosis was made. However, he became progressively lethargic and his condition continued to deteriorate. He died 2 months after the beginning of the treatment. Nonketotic hyperglycinemia is an autosomal recessive disorder, which is characterized by a rapid neurological & Tanyel Zubarioglu tanyel0554@yahoo.com

Biotinidase deficiency mimicking primary immune deficiencies.

Biotinidase deficiency (BD) is an inborn metabolic disorder inherited in an autosomal recessive manner. Partially due to high consanguinity rates in Turkey, BD incidence is high in Turkey. If left untreated, neurological abnormalities including seizures, hypotonia, sensorineural deafness, alopecia, egzamatous skin rash and candidiasis may occur. Three-years-old girl was admitted to hospital with recurrent infections, candidiasis and egzamatous skin rash. Immunological evaluation was normal. Associated deafness and consanguinity of the parents suggested BD which has been proven by enzyme activity measurement. With this report, we want to emphasise that BD can be the underlying cause of recurrent infections and candidiasis.

Coagulation Disturbances in Patients with Argininemia

Background: Argininemia is an autosomal recessive urea cycle disorder (UCD). Unlike other UCD, hyperammonemia is rarely seen. Patients usually present in childhood with neurological symptoms. Uncommon presentations like neonatal cholestasis or cirrhosis have been reported. Although transient elevations of liver transaminases and coagulopathy have been reported during hyperammonemia episodes, a permanent coagulopathy has never been reported. Methods: In this retrospective study, coagulation disturbances are examined in 6 argininemia patients. All of the patients were routinely followed up for hepatic involvement due to argininemia. Laboratory results, including liver transaminases, albumin, prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (aPTT), and clotting factor levels, were assessed in all of the patients. Results: All of the patients had a prolonged PT and an increased INR, while none of the patients had a prolonged aPTT. Five patients had slightly elevated liver transaminases. A liver biopsy was performed in 1 patient but neither cirrhosis nor cholestasis was documented. Five of the 6 patients had low factor VII and factor IX levels, while other clotting factors were normal. Conclusions: Argininemia patients should be investigated for coagulation disorders even if there is no apparent liver dysfunction or major bleeding symptoms.

AB1007 Determination of Free Carnitine and Acyl-Carnitine Status of Patients with Juvenile Idiopathic Arthritis

Background Juvenile idiopathic arthritis (JIA) is not a single disease; its group of all arthritis with unknown etiology, starting before 16 years of age and lasting at least 6 weeks long. JIA is the most common rheumatic disease in childhood. Carnitine is an important molecule in cellular energy metabolism. Secondary carnitine deficiency can be detected in chronic diseases by either renal loss or increased demand. Objectives We hypothesized that secondary carnitine deficiency may be seen to increased demand in JIA patients. In the present study our aim is to determine free carnitine and acyl-carnitine levels of Turkish JIA patients. Methods 114 patients with a diagnosis of juvenile idiopathic arthritis and a healthy 50 individuals served as control group, were included to the study. A fasting blood sample was taken for free carnitine and acyl-carnitine esters with tandem mass spectrometry from children in both groups. Results Screening of acyl-carnitine profile revealed free carnitine, C14, C16, C16-OH, C18 and C18:2-OH carnitine levels were higher (p<0,0001, p<0,0001, p<0,0001, p<0,0001 and p=0,004 respectively), while C6 carnitine levels were lower (p<0,0001) in JIA patients than the control group. Free carnitine levels were significantly higher (48.05±13.36 μmol/L) in patients under anti-inflammatory drug therapy than those who did not receive any treatment (43.18±7.96 μmol/L) (p=0,004). Conclusions In the present study we were not able to define secondary carnitine deficiency in JIA patients, therefore routine carnitine supplementation is not recommended in all patients with JIA. References Ravelli A, Martini A. Juvenile idiopathic arthritis. Lancet. 2007 Mar 3; 369(9563):767-78. Stanley CA. Carnitine deficiency disorders in children. Ann N Y Acad. Sci.2004; 1033:42–51. Disclosure of Interest None declared