TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis.

BACKGROUND: TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. METHODS: We report the clinical phenotype of two children with TANGO2 deficiency disorder. RESULTS: Patient 1 is a female child presenting with developmental delay and microcephaly during the second year of life, who evolved with severe cognitive impairment, facial dysmorphisms, spastic paraparesis, and atonic seizures. At age 13 years, she was hospitalized due to an episode of rhabdomyolysis complicated with cardiac arrhythmia and hypothyroidism. Patient 2 is a female child with dysmorphic facial features, cleft palate, and developmental delay who was diagnosed with DiGeorge syndrome. At age three years, she presented with an acute episode of severe rhabdomyolysis in the context of human herpesvirus 6 infection. After the resolution of this acute episode, she maintained recurrent muscle weakness with axial hypotonia and progressive spasticity of the lower extremities. In both patients, diagnosis of TANGO2 deficiency disorder was only confirmed after an acute metabolic crisis. CONCLUSIONS: A high index of suspicion for TANGO2 deficiency disorder is needed in patients with developmental delay or other neurological symptoms and episodic rhabdomyolysis.

Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit.

Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at delivery with thickened and scaling skin, ectropium and eclabium. Supportive care aiming at improving skin condition and handling possible complications was provided. Following gradual clinical improvement, he was discharged after 27 days. Molecular testing identified mutations in a gene encoding lipoxygenase (ALOX12B), associated with autosomal recessive congenital ichthyosis. This case highlights an uncommon disease that can determine significant morbidity and mortality in the first few weeks of life. Management of this complex disease benefits from a multidisciplinary approach. Molecular studies allow a more accurate diagnosis and enable genetic counselling.

Anogenital condylomata acuminata in young children: not always result of sexual transmission.

Condylomata acuminata lesions, commonly known as anogenital warts, are caused by human papillomavirus and manifest as flesh-coloured or hyperpigmented papules or plaques in the anogenital region. We report the case of a previously healthy young child that presented with anal condyloma lesions without other accompanying symptoms. His mother had similar lesions in the genital area. After careful investigation, no evidence of sexual abuse was found. Gradual clinical improvement was observed without treatment. This case highlights a disease that, when diagnosed in children, should alert the physician to the possibility of sexual abuse. However, other transmission routes, such as vertical transmission or autoinoculation and heteroinoculation during non-sexual contact, should also be considered.