Filipa Rodrigues

Background/Objectives: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare neurometabolic disorder caused by pathogenic variants in the SLC2A1 and a treatable cause of epilepsy and movement disorders. We aimed to describe clinical variability, diagnostic pathways and treatment outcomes in a paediatric case series, with a focus on ketogenic diet management. Methods: We retrospectively reviewed five paediatric patients with genetically confirmed glucose transporter type 1 deficiency syndrome followed at a tertiary center. Clinical presentation, biochemical findings, genetic results, treatment, dietary adherence and outcomes were analyzed. Results: Patients presented with development delay (4/5), movement disorders (4/5) and seizures (2/5), with symptom onset between 4 and 14 months. Diagnosis occurred between 22 and 54 months. Pathogenic SLC2A1 variants were identified in all patients, de novo in three cases. Hypoglycorrhachia was documented in two patients. All patients were treated with a classical ketogenic diet (ratio 1:1 to 3:1). Clinical improvement was observed in four patients, including better seizure control and motor function, although ketone levels were frequently suboptimal. Treatment duration ranged from two to 17 years. Long-term adherence and dietary implementation represented major challenges. Conclusions: Glucose transporter type 1 deficiency syndrome shows marked clinical heterogeneity, which may delay diagnosis. The ketogenic diet is effective in improving seizure control and neurological outcomes, although long-term adherence remains a major challenge. This case series highlights practical difficulties in diagnosis and dietary management in real-world clinical settings.

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A 15-year-old girl was admitted to emergency department with an acute flaccid tetraparesis with no other symptoms. A history of recurrent similar episodes with spontaneous recovery was reported and no family history was known. Laboratory tests revealed severe hypokalaemia and hypokaluria. Symptoms resolution occurred after potassium replacement. The diagnosis of hypokalaemic periodic paralysis (HPP) was confirmed by genetic testing, which revealed a not previously described mutation in CACNA1S gene (c.3715C>G p.Arg1239Gly). HPP is a rare neuromuscular disorder that causes episodic attacks of flaccid paralysis with concomitant hypokalaemia. Primary forms of the disease are skeletal muscle ion channelopathies. HPP occurs due to a problem in potassium distribution rather than a total body potassium deficiency. Therefore potassium replacement should be carefully performed because of the risk of rebound hyperkalaemia. Knowing this rare entity is important in order to avoid diagnostic delays and so that proper treatment can be initiated to reduce morbidity and mortality.

Thyroid hormone is crucial in the development of different organs, particularly the brain. MCT8 is a specific transporter of triiodothyronine (T3) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, characterized by psychomotor retardation and hypotonia. Typically, elevation of T3 and delayed myelination in cerebral magnetic resonance imaging are found.