Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

Aim:Alkaptonuria (AKU) is an autosomal recessively inherited disease caused by a deficiency of homogentisate 1,2-dioxygenase. This enzyme converts homogentisic acid (HGA) into maleylacetoacetic acid in the tyrosine degradation pathway. The presence of HGA in urine, ochronosis (bluish-black pigmentation in connective tissues) and arthritis of the spine and the other large joints are the three major features of AKU. Nitisinone and a tyrosine-restricted diet are the treatment options. In this study, we evaluated the demographic and clinical characteristics and also the mutations of our AKU patients.Materials and Methods:This retrospective single centre study included 36 patients who were diagnosed as AKU between the years of 2002 and 2017 Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Metabolism and Nutrition.Results:Thirty six AKU patients were included (17 female, 19 male) in our study. The mean age of the patients was 9.3±13.4 years (3 months-54 years). The major complaints were darkening of the urine (100%), ochronosis (11.1%), arthralgia (16.7%) and arthritis (8.1%). Darkening of the urine was firstly recognized at the age of 8.89±16.9 months (1-84 months). Eighteen (86%) patients had homozygous and 3 (14%) patients had compound heterozygous mutations in the HGD gene.Conclusion:AKU was the first inherited metabolic disease defined. The three main features are; darkening of the urine at birth which is followed by ochronosis (blue-dark pigmentation) clinically visible in the ear and alae of the nose and finally a severe ochronotic arthropathy of the spine and large joints at around the age of 50 years. Here we report on the clinical and genetic features of our patients at various ages

A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

Typical features of Netherton syndrome are congenital ichthyosiform erythroderma, atopic diathesis and trichorrhexis nodosa. Here in this report, we present a case with congenital ichthyosis with atopy presenting later. We wanted to discuss the importance of whole exome sequencing to diagnose the atypical presentations of common syndromes

Blue-colored sweating: four infants with apocrine chromhidrosis

Apocrine chromhidrosis is a very rare, idiopathic disorder of the sweat glands characterized by the secretion of colored sweat. Because hormonal induction increases sweating, the symptoms of apocrine chromhidrosis usually begin after puberty. Although treatment may not be necessary in some cases, capsaicin cream and 20% aluminum chloride hexahydrate solution have been successfully used to treat patients requiring intervention. Here we report four cases with apocrine chromhidrosis. To the best of our knowledge, our patients are the youngest cases reported in the literature.Apocrine chromhidrosis is a very rare, idiopathic disorder of the sweat glands characterized by the secretion of colored sweat. Because hormonal induction increases sweating, the symptoms of apocrine chromhidrosis usually begin after puberty. Although treatment may not be necessary in some cases, capsaicin cream and 20% aluminum chloride hexahydrate solution have been successfully used to treat patients requiring intervention. Here we report four cases with apocrine chromhidrosis. To the best of our knowledge, our patients are the youngest cases reported in the literature

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. Case Report: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. Conclusion: We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I.Background: Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1.3 cyclohexanedione (NTBC) treatment, the prognosis improved with reduced rate of complications. Case Report: Here, we report a 6-year-old girl with tyrosinemia type I who discontinued NTBC treatment six months prior to admission, presenting with complaints of abdominal pain, vomiting, anorexia, weakness, and restlessness, suggesting the clinical status of neurologic crisis. Further laboratory and radiologic evaluation revealed that indeed this is a pancreatitis. Conclusion: We report this case as tyrosinemia type I and pancreatitis was reported only in one case in the literature, emphasizing confusing clinical signs of neurological crisis, and pancreatitis in tyrosinemia type I

L-2-Hydroxiglutaric Aciduria: Three Case Reports

L-2-hidroksiglutarik asidüri nadir rastlanan, otozomal resesif geçişli, metabolik bir hastalıktır.Hastalık zihinsel engellilik, ataksi, ekstrapiramidal bulgular ve nöbetler ile gider.Tanısı kranial manyetik rezonans görüntüleme ve idrar organik asit incelemesi ile konur.Bu makalede L-2-hidroksiglutarik asidürili üç hasta sunulmuştur.L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The disease is characterized by intellectual disability, ataxia, extrapyramidal signs and seizures. Diagnosis is made by cranial magnetic resonance imaging and urine organic acid analysis. In this report, we presented three patients with L-2-hydroxiglutaric aciduria

Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone

PubMedID: 27188289Tyrosinemia type I is an autosomal recessively inherited metabolic disease of tyrosine metabolism due to the deficiency of fumarylacetoacetate hydrolase. Clinical manifestations include hepatic failure, cirrhosis, hepatocellular carcinoma, renal fanconi syndrome, and neurologic crisis. With the introduction of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione treatment the prognosis improved with reduced rate of complications. “Neurologic crisis” of tyrosinemia type I is a rare complication seen after discontinuation of treatment characterized with anorexia, vomiting, and hyponatremia in the initial phase continuing with paresthesia and paralysis of the extremities and the diaphragm. Here, we report a tyrosinemia type I patient who admitted to the hospital with nonspecific symptoms such as vomiting, anorexia, weakness, and restlessness only after one month discontinuation of nitisone and diagnosed as neurological crisis. © 2016, Springer Science+Business Media New York

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in SLC52A3 (formerly C20orf54) gene. The first sibling was admitted with respiratory insufficiency and required mechanical ventilation. After administration of a high dose of riboflavin, all his clinical symptoms were resolved, which also strongly suggested the diagnosis of BVVLS. The second sibling was also found to have the same genetic mutation as her brother. Although she was symptom-free, riboflavin was initiated empirically. On follow-up, she developed no neurologic or metabolic problems with entirely normal growth and development. BVVLS should be considered in the differential diagnosis of unexplained neurologic symptoms such as polyneuropathy and respiratory insufficiency, as BVVLS and multiple acyl-CoA dehydrogenation defect have broadly overlapping symptoms. Furthermore, our cases once again suggest that with proper diagnosis and early high-dose riboflavin treatment, complete reversal of neurologic deficits in BVVLS is possibl

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey

önenli-Mungan N, KörD, Karabay-Bayazıt A, Cengiz N, YavuzS, NoyanA, CeylanerG, Şeker-Yılmaz B, TopaloğluAK, YükselB, AnaratA. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. Turk J Pediatr 2016; 58: 362-370.We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c.451A>G, 7 patients with homozygous c.681G>A, 6 patients with homozygous c.834_842del, 2 patients with homozygous c.18_21delGACT and 1 patient with compound heterozygous for c.451A>G/ c.1015G>A. The c.834_842del mutation identified in six patients from four families has not been previously identified.Progression to renal failure occurred earlier in the patients identified with the new mutation, despite treatment. Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course.önenli-Mungan N, KörD, Karabay-Bayazıt A, Cengiz N, YavuzS, NoyanA, CeylanerG, Şeker-Yılmaz B, TopaloğluAK, YükselB, AnaratA. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. Turk J Pediatr 2016; 58: 362-370.We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c.451A>G, 7 patients with homozygous c.681G>A, 6 patients with homozygous c.834_842del, 2 patients with homozygous c.18_21delGACT and 1 patient with compound heterozygous for c.451A>G/ c.1015G>A. The c.834_842del mutation identified in six patients from four families has not been previously identified.Progression to renal failure occurred earlier in the patients identified with the new mutation, despite treatment. Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course