Biomedical subjects

Angels García-Cazorla

Publications and source records attributed to Angels García-Cazorla.

5 recordsLinked to original sources

PubMed2006

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

BACKGROUND: Cerebral folate deficiency (CFD) has been described as a neurological syndrome associated with low 5-methyltetrahydrofolate (5-MTHF) values in cerebrospinal fluid (CSF) with normal folate concentrations in plasma. Our aim was to analyse CSF 5-MTHF concentrations in a paediatric control population and in patients with various neurological disorders. METHODS: We studied plasma and CSF samples from 63 paediatric controls (age range: 2 days to 18 years, average: 3.8 years) and from 165 patients (age range: 1 day to 22 years, average: 5.0 years) with severe epileptic encephalopathies of unknown origin, movement disorders, Rett syndrome and mitochondrial diseases. CSF 5-methyltetrahydrofolate was analysed by reverse phase HPLC with fluorescence detection (excitation: 295 nm and emission: 355 nm). RESULT: A negative correlation between 5-MTHF values and age of controls was observed (r=-0.468; p<0.0001) and reference values were therefore stratified into 3 age groups. Regarding patients, 122 out of 165 showed normal CSF 5-MTHF values while 43 showed decreased values ranging from profound to mild deficiencies. Increased CSF total protein values were associated with the presence of low 5-MTHF concentrations (chi(2)=7.796; p=0.005). CONCLUSIONS: The application of this method has been useful for the establishment of reference values and for diagnosis of CFD in paediatric patients. Furthermore, increased CSF total protein concentrations should be considered as a marker of a possible CFD.

Adolescent↗

PubMed2006

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

OBJECTIVE: Pyruvate carboxylase (PC) deficiency is a rare metabolic disease. Recently, therapeutic possibilities have been introduced. We aimed to report the largest series of the B type of PC deficiency, focusing on some neurological aspects that have not yet been documented. METHODS: We retrospectively studied nine patients with the severe neonatal form of PC deficiency diagnosed in our hospital. Detailed clinical features, brain imaging, biochemical characteristics, and global outcome are reported. RESULTS: All patients had axial hypotonia and tachypnea during the first hours of life. The initial level of consciousness was preserved in most patients. Abnormal movements (high-amplitude tremor and hypokinesia) and bizarre ocular behavior were the most common findings, whereas epilepsy was infrequent. Brain magnetic resonance imaging mostly disclosed cystic periventricular leukomalacia. Hypoglycemia, lactic acidosis, and hypercitrullinemia were invariably found. Hyperammoniemia, hypernatremia, and high proline and lysine were frequently detected. A rapid fatal outcome was observed in most patients. INTERPRETATION: Clinical and biochemical characteristics of this deficiency are highly suggestive. Abnormal movements such as rigidity and hypokinesia (hypokinetic-rigid syndrome) are an important hallmark and may orientate to PC deficiency when associated with severe lactic acidosis.

Amino Acids↗

PubMed2005

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.

The analysis of biogenic amines (BA) and pterins in cerebrospinal fluid (CSF) is essential for the early diagnosis of neurotransmission defects in the paediatric age. Our aim was to standardize previously reported HPLC procedures for the analysis of BA and pterins in CSF and to establish reference values for a paediatric population. Samples from 127 subjects (age range 11 days to 16 years; average 3.8) were analyzed by HPLC with electrochemical and fluorescence detection. Both BA (homovanilic and 5-hydroxyindoleacetic acid) and pterins (neopterin and biopterin) concentrations in CSF showed a negative correlation with age. This finding led us to stratify reference values into six groups according to age. In conclusion, analysis of BA and pterins in CSF by HPLC procedures is a useful set of tools for the diagnosis of inborn errors of metabolism of these compounds. The establishment of reference intervals may be difficult, since there is a strong correlation between BA concentrations and the age of controls and, as a result, a large number of CSF samples from control populations would be necessary for this purpose.

Adolescent↗

PubMed2004

White matter alterations associated with chromosomal disorders.

White matter alterations in chromosomal disorders have been reported mainly in 18q-syndrome. Our aim was to evaluate white matter alterations in patients with chromosomal abnormalities detected through conventional cytogenetic techniques. Forty-four patients with chromosomal abnormalities, excluding trisomy 21, were diagnosed in our hospital between May 1999 and December 2002 (24 males, 20 females; mean age 6 years 4 months [SD 3 years 2 months], range 0 to 18 years). Of the 44 patients, 14 had brain magnetic resonance imaging (12 males, 2 females; mean age 4 years 2 months [SD 4 years 4 months]; five with sex chromosomal disorders [SCD] and nine with autosomal chromosomal disorders [ACD]). Of these 14 patients, eight (four with SCD and four with ACD) had abnormal white matter findings of similar patterns. These patients had pseudonodular, subcortical, and periventricular white matter high signal intensity images in T2, and fluid-attenuated inversion recovery sequences that were isolated or confluent. The images did not correlate with the neurological clinical state. Given that eight of the 14 patients showed these lesions, their prevalence in different chromosomal abnormalities appears to be high, even though they have not been well reported in the literature. To our knowledge, these alterations have never been described in SCD. We concluded that unknown factors related to the myelination processes may be localized in different chromosomes.

Abnormalities, Multiple↗

PubMed2004

Infectious acute hemicerebellitis.

We report the case of a 5-year-old girl with initial symptoms of encephalitis who presented 24 hours later with hemiataxia, unilateral dysmetria, and hemiparesis. Brain magnetic resonance image (MRI) revealed a high T2-weighted signal in the ipsilateral hemicerebellar cortex. Forty-five days later, a second MRI disclosed signs of hemiatrophy and cortical gliosis. The clinical outcome was favorable, with only a slight lack of motor coordination in the involved hand remaining. Three other cases of hemicerebellitis have been reported in the literature, two of them presenting with hemicerebellar symptoms and one mimicking a tumor. Follow-up imaging studies some months later have shown hemiatrophy of the cerebellar cortex, except in one case with a normal control MRI. The pathophysiology of this unilateral involvement is difficult to explain. We underline the need to consider this rare entity in asymmetric cerebellar clinical presentations and to perform MRI rather than computed tomography to reach the correct diagnosis.

Acute Disease↗