The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Urea cycle disorders (UCDs), including OTC deficiency (OTCD), are life-threatening diseases with a broad clinical spectrum. Early diagnosis and initiation of treatment based on a newborn screening (NBS) test for OTCD with high specificity and sensitivity may contribute to reduction of the significant complications and high mortality. The efficacy of incorporating orotic acid determination into routine NBS was evaluated. Combined measurement of orotic acid and citrulline in archived dried blood spots from newborns with urea cycle disorders and normal controls was used to develop an algorithm for routine NBS for OTCD in Israel. Clinical information and genetic confirmation results were obtained from the follow-up care providers. About 1147986 newborns underwent routine NBS including orotic acid determination, 25 of whom were ultimately diagnosed with a UCD. Of 11 newborns with OTCD, orotate was elevated in seven but normal in two males with early-onset and two males with late-onset disease. Orotate was also elevated in archived dried blood spots of all seven retrospectively tested historical OTCD patients, only three of whom had originally been identified by NBS with low citrulline and elevated glutamine. Among the other UCDs emerge, three CPS1D cases and additional three retrospective CPS1D cases otherwise reported as a very rare condition. Combined levels of orotic acid and citrulline in routine NBS can enhance the detection of UCD, especially increasing the screening sensitivity for OTCD and differentiate it from CPS1D. Our data and the negligible extra cost for orotic acid determination might contribute to the discussion on screening for proximal UCDs in routine NBS.

Characteristics and management of arachnoid cyst in the pediatric headache clinic setting.

OBJECTIVE/BACKGROUND: Arachnoid cysts are generally identified incidentally on brain imaging, although they occasionally cause symptoms because of expansion or bleeding. This study aims to describe patients in whom an arachnoid cyst was identified on magnetic resonance imaging (MRI) study performed for the evaluation of headache in a pediatric headache clinic and to highlight the clinical dilemma posed by this finding. METHODS: A retrospective descriptive study design was used. The electronic database of a tertiary pediatric headache clinic was searched for all newly admitted patients with headache who underwent MRI evaluation in 2008-2013. The indications for imaging were based on clinical practice parameters recommended by the Subcommittee of the American Academy of Neurology. Clinical and imaging parameters were collected from the files. Findings were compared between patients with and without an arachnoid cyst. RESULTS: Of the 250 (31%) of 800 patients who met the inclusion criteria, 11 (4.4%) had an arachnoid cyst. Two patients had a ruptured cyst with midline shifting and a large subdural collection. Both presented with headache, vomiting, phonophobia, and photophobia. In the other 9 asymptomtic patients with an arachnoid cyst, imaging showed only a mild mass effect without midline shifting; their symptoms were considered unrelated to the cyst. The patients with a symptomatic arachnoid cyst were referred for surgery, with good outcome. CONCLUSIONS: Arachnoid cysts are found in a small percentage of brain scans performed for evaluation of headache in the setting of a hospital-based pediatric headache clinic. For the long run in these clinical settings, most of the cysts are asymptomatic. Precise anamnesis, neurologic examination, and imaging performed according to accepted practice guidelines may help clinicians determine if the headache and symptoms are caused by the cyst or if they should seek primary headache diagnosis with overlapping symptoms. The clinical distinction between symptomatic and asymptomatic patients (symptoms that are directly related to the arachnoid cyst) may be difficult. Family history of migraine may help in the diagnosis of asymptomatic patients.

Migraine and cephalic cutaneous allodynia in pediatric patients.

Allodynia is a central sensitization state characterized by a perception of pain to normally nonpainful stimuli. The objective of this study was to determine the frequency of allodynia in children with migraine and to identify clinical features specific to this patient group.