Browsing by Author "Fonseca, Margarida Silva"
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- Eating disorder - a diagnosis of exclusionPublication . Fonseca, Margarida Silva; Santos, Helena; Guedes, Raquel; Tavares, Hugo BragaIn adolescents with weight loss, diagnoses other than eating disorders should be considered, namely neurological diseases. A 16-year-old girl with an intellectual development disorder was referred to the Adolescent Medicine outpatient clinic from Child Psychiatry with a diagnosis of eating disorder and persistent anemia. Her body mass index was consistently below the fifth percentile and long-lasting eating difficulties were reported since the age of 15. The girl had no other gastrointestinal, articular, or respiratory complaints, neither polyuria, polydipsia, or recurrent fever. Parental divorce and domestic violence were reported. The patient complained of excessive daytime sleepiness, asthenia, intermittent myalgia, and muscular weakness episodes. Phenotypic characteristics and personal medical history led to clinical suspicion of a neuromuscular disease and genetic study confirmed myotonic dystrophy type 1. This case highlights the importance of considering other diagnoses besides eating disorders in adolescents with eating problems. An exhaustive evaluation of personal and family medical history, patient complaints, and detailed physical examination is mandatory.
- A very rare cause of infantile spasmsPublication . Fonseca, Margarida Silva; Vieira, Clara; Chorão, Rui; Bandeira, Anabela; Carrilho, InêsPsychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement. Herein is reported the case of a toddler for whom hair development, epileptic seizure evolution, and electroencephalographic findings were key for Menkes kinky hair disease diagnosis. The typical electroclinical evolution in this syndrome has rarely been previously reported. A 22-month-old boy, born at 35 weeks, was admitted to the hospital by the age of two months due to epileptic seizures. Physical examination revealed dysmorphic facial features, pectus excavatum, and inguinal hernias. Antiepileptic drugs were initiated and one month later the patient was readmitted with recurrent epileptic seizures. Transfer to a hospital with Pediatric Neurology support was required, where light-toned and pleated skin, sparse hair, failure to thrive, and axial hypotonia were remarked. Initial investigation with general metabolic, neuroimaging, ophthalmological, and microarray study revealed no changes. Electroencephalograms were markedly abnormal, initially with focal changes and later with hypsarrhythmia. Considering the patient’s phenotype, copper serum level was analysed, with null value. Molecular study confirmed Menkes kinky hair disease and copper histidine therapy was initiated. Menkes kinky hair disease should be considered in infants with global developmental delay, severe hypotonia, refractory epilepsy, and typical hair and skin changes occurring early in life. However, neonatal diagnosis is hampered by age-unspecific signs and symptoms. Despite being a rare and fatal entity, timely diagnosis allowing early therapy institution and avoiding unnecessary additional tests and prompt genetic counseling are of utmost importance.