[Severe thrombopenia with iron deficiency anemia: about a case and literature review]. / Thrombopénie sévère d'origine ferriprive : à propos d'un cas et revue de la littérature.

Iron deficiency is the leading cause of anemia worldwide, affecting approximately 600 million individuals. Once established, it typically manifests as a hypochromic microcytic anemia, the severity of which varies depending on the degree of deficiency. This anemia is frequently associated with thrombocytosis, but the presence of associated thrombocytopenia is much rarer. Here, we report a case of severe iron deficiency with an atypical presentation of bicytopenia, involving both severe anemia and profound thrombocytopenia, which rapidly resolved following iron supplementation. We then discuss the hypotheses that exist to explain the link between iron deficiency and regulation of thrombopoiesis.

An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency.

3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Lyase deficiency (HMGLD) (OMIM 246450) is an autosomal recessive genetic disorder caused by homozygous or compound heterozygous variants in the HMGCL gene located on 1p36.11. Clinically, this disorder is characterized by a life-threatening metabolic intoxication with a presentation including severe hypoglycemia without ketosis, metabolic acidosis, hyper-ammoniemia, hepatomegaly and a coma. HMGLD clinical onset is within the first few months of life after a symptomatic free period. In nonacute periods, the treatment is based on a protein- and fat-restricted diet. L-carnitine supplementation is recommended. A late onset presentation has been described in very few cases, and only two adult cases have been reported. The present work aims to describe an incidental discovery of an HMGLD case in a 54-year-old patient and reports a comprehensive review of clinical and biological features in adult patients to raise awareness about the late-onset presentation of this disease.