Your browser doesn't support javascript.
loading
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.
Dupuy, Gabrielle; Roux, Charles-Joris; Barrois, Rémi; Imbard, Apolline; Pontoizeau, Clément; Dangles, Marie Thérèse; Aubart, Mélodie; Arnoux, Jean-Baptiste; Margoses, Diane; Brassier, Anaïs; Marbach, Clothilde; Bérat, Claire-Marine; Sarda, Eugénie; Gitiaux, Cyril; de Lonlay, Pascale; Boddaert, Nathalie; Schiff, Manuel; Desguerre, Isabelle.
Afiliación
  • Dupuy G; Pediatric Neurology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France. Electroni
  • Roux CJ; Pediatric Radiology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France.
  • Barrois R; Pediatric Neurology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France; Pediatric Neurophysiology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France.
  • Imbard A; Department of Biochemistry, Necker-Enfants-Malades Hospital, APHP, University of Paris Saclay, Paris, France.
  • Pontoizeau C; Department of Biochemistry, Necker-Enfants-Malades Hospital, APHP, University of Paris Saclay, Paris, France.
  • Dangles MT; Pediatric Neurology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France.
  • Aubart M; Pediatric Neurology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France.
  • Arnoux JB; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France.
  • Margoses D; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France.
  • Brassier A; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France.
  • Marbach C; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France.
  • Bérat CM; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France.
  • Sarda E; Pediatric Neurology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France.
  • Gitiaux C; Pediatric Neurology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France; Pediatric Neurophysiology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France.
  • de Lonlay P; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France; INSERM U1151, Institut Necker-Enfants-Malades (INEM), Paris, France.
  • Boddaert N; Pediatric Radiology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France; INSERM UMRS_1163, Imagine Institute, Paris, France.
  • Schiff M; Reference Center for Inborn Errors of Metabolism, Department of Pediatrics, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, G2M Network, MetabERN, Paris, France; INSERM UMRS_1163, Imagine Institute, Paris, France.
  • Desguerre I; Pediatric Neurology Department, Necker-Enfants-Malades Hospital, APHP, University of Paris Cité, Paris, France.
Eur J Paediatr Neurol ; 50: 6-15, 2024 May.
Article en En | MEDLINE | ID: mdl-38520815
ABSTRACT
BACKGROUND AND

AIMS:

Water-soluble vitamins play an essential coenzyme role in the nervous system. Acquired vitamin deficiencies are easily treatable, however, without treatment, they can lead to irreversible complications. This study aimed to provide clinical, laboratory parameters and neuroimaging data on vitamin deficiencies in an attempt to facilitate early diagnosis and prompt supplementation.

METHODS:

From July 1998 to July 2023, patients at Necker-Enfants-Malades Hospital presenting with acute neurological symptoms attributed to acquired vitamin deficiency were included. Clinical data were extracted from Dr Warehouse database. Neuroimaging, biochemical and electrophysiological data were reviewed.

RESULTS:

Patients with vitamin B1 deficiency exhibited abnormal eye movements (n = 4/4), fluctuations in consciousness (n = 3/4), and ataxia (n = 3/4). Brain MRI showed alterations of fourth ventricle region (n = 4/4), periaqueductal region (n = 4/4), tectum (n = 3/4), and median thalami (n = 3/4). Patients with vitamin B2 deficiency presented with early onset hypotonia (n = 3/4), hyperlactatemia (n = 4/4), and hyperammonemia (n = 4/4). Plasma acylcarnitines revealed a multiple acyl-coA dehydrogenase deficiency-like profile (n = 4/4). In vitamin B12 deficiency, young children presented with developmental delay (n = 7/7) and older children with proprioceptive ataxia (n = 3/3). Brain MRI revealed atrophy (n = 7/7) and spinal MRI hyperintensity in posterior cervical columns (n = 3/3). Metabolic findings showed elevated methylmalonic acid (n = 6/7) and hyperhomocysteinemia (n = 6/7). Patients with vitamin C deficiency exhibited gait disturbances and muscle weakness (n = 2/2).

CONCLUSIONS:

Acquired vitamin deficiencies may display reversible clinical symptoms mimicking inherited metabolic disorders. Some situations raise suspicion for diagnosis concordant clinical presentation, suggestive neuroimaging findings, and/or biochemical evidence. Any acute neurological condition should be treated without waiting for definitive biochemical confirmation.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Imagen por Resonancia Magnética / Neuroimagen Idioma: En Revista: Eur J Paediatr Neurol Año: 2024 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Imagen por Resonancia Magnética / Neuroimagen Idioma: En Revista: Eur J Paediatr Neurol Año: 2024 Tipo del documento: Article