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[Severe anorexia in infants in Reunion: a new autosomal recessive disease?]
M Renouil1, A Fourmaintraux, F Cartault
1Service de pédiatrie, centre hospitalier Sud Réunion, Saint-Pierre, France.
Insights
A new severe infantile anorexia syndrome, named RAVINE, is identified with a potential hereditary neurobiological eating disorder etiology. This condition presents with severe anorexia, vomiting, and neurological issues, often proving fatal in infants.
Area of Science:
- Genetics
- Neurology
- Metabolic disorders
Context:
- Infantile anorexia is typically viewed as a psychogenic disorder.
- Severe cases in Reunion suggest a novel metabolic etiology.
- 24 infants with severe anorexia were retrospectively studied over 25 years.
Purpose:
- To investigate a potential new metabolic etiology for severe infantile anorexia.
- To characterize the clinical presentation and hereditary patterns of this severe anorexia syndrome.
- To explore possible underlying biological mechanisms, including mitochondrial and serotonin metabolism disorders.
Summary:
- A severe infantile anorexia syndrome, termed RAVINE (Reunion, Anorexia, Vomiting, Irrepressible, Neurological), is described.
- The syndrome presents with severe anorexia, irrepressible vomiting, and neurological disorders, with a high mortality rate.
- Autosomal recessive inheritance is suggested, with potential links to mitochondrial or serotonin metabolism disorders.
Impact:
- Identifies a distinct, severe infantile anorexia syndrome (RAVINE) with a proposed hereditary neurobiological basis.
- Highlights the need for further research into metabolic and genetic factors contributing to severe eating disorders in infants.
- Findings may lead to improved diagnostics and understanding of rare pediatric neurological and metabolic conditions.
Background:
Infantile anorexia is usually considered as a psychogenic disorder with benign prognosis. However, unusually severe characteristics of infantile anorexia, seen in the south of the island, seem to us in favor of a new metabolic etiology.
Population And Methods:
Among 38 known cases, we retrospectively studied the best documented observations of 24 children admitted over the last 25 years to our institution.
Results:
The sex ratio was ten females and 14 males. Twenty-three of the 24 infants lived in formerly isolated localities of the island where other hereditary diseases have been observed with an unusually high frequency. The family pedigrees favoured an autosomal recessive heredity. Severe anorexia, accompanied by irrepressible vomiting (91%), appeared at the age of 8.5 months +/- 3.5. Parenteral (54.2%) or enteral (54.2%) feeding was necessary but did not always avoid death, which occurred in 45.8% of the cases at the age of 24 months +/- 3.5. All of the children which survived had neurological disorders (pyramidal syndrome, ataxia, laryngeal palsy, mental retardation, seizures) which occurred sometimes at an early stage. The investigations did not allow the identification of any known cause.
Discussion:
The elevated level of lactic acid in the cerebral spinal fluid seemed to indicate a possible mitochondrial disorder, eventually a mutation of an autosomal gene of the pyruvate dehydrogenase complex because of the normal lactate/pyruvate ratio, but enzymatic activities were normal. The cerebral MRI showed features of leukodystrophy. On the other hand, the elevated level of plasma serotonin seemed to indicate a disorder of the serotonin metabolism, for which an animal model exists.
Conclusion:
We propose to name this new syndrome by the acronym 'RAVINE' which associates Reunion, Anorexia, Vomiting which is Irrepressible, and Neurological signs. Linkage study might allow the localization and isolation of a gene and allow one to start understanding the biological mechanism which we suspect to be an hereditary neurobiological eating disorder.