BGMJ_Ano de 2025
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- Unveiling the Complexity: Mosaic Cardiofaciocutaneous Syndrome Presenting with Exuberant Elephantiasis Nostras VerrucosaPublication . Rodrigues, Ana Sofia; da Silva, Maria de Abreu Nunes; Azevedo, Aida; Carvalho, Sónia Cristina Dias; Sousa, Álvaro Rui Miranda; Fortuna, AnaCardiofaciocutaneous syndrome (CFC) is a rare disorder of the RAS MAPK-pathway and is characterized by dysmorphic facial appearance, hair and skin abnormalities, congenital heartdefects, growth retardation and global developmental delay. We report the clinical case of a 17 -year-old female with hemihypertrophy, lymphedema, dysmorphic features and intellectual disability in whom peripheral blood panel study for RASopathies confirmed the presence of KRAS pathogenic variant c.34G>A (G12D). The ectodermal phenotype, including lymphedema appeared to be restricted to the right hemihypertrophy, and its pattern is suggestive of mosaicism for the condition, which has not previously been described in CFC, to our knowledge.
- Long COVID-19 in Adolescence: A Case Report on its Mental Health ImpactPublication . Monteiro, Maria do Rosário; Aguiar, Inês GuerraLong COVID-19 is a heterogeneous syndrome characterized by various signs and symptoms that persist for a minimum of two months after contracting the virus. Fatigue, cognitive deficits, depression, and anxiety are among the most commonly reported neuropsychiatric symptoms, which are often accompanied by noticeable functional impairment and distress.Here we report the case of a 14-year-old female adolescent with long COVID-19, who manifested extreme fatigue and adynamia, along with difficulties in exercising, attending school and studying. Moreover, she developed an adjustment disorder with depressive and anxiety symptoms due to the impact of the organic malaise, showing a positive response to treatment with antidepressants. Despite the lack of in-depth conclusions regarding the underlying causes of mental health problems in long COVID-19, these issues are likely multifactorial, involving stressors, physical symptoms, and systemic inflammation. The importance of screening and early intervention for children and adolescents with long COVID-19 should be emphasized.
- A Case of Amnesia after SARS-CoV-2 InfectionPublication . Henriques, Virgínia; Vieira, Maria da Paz Saldanha; Gonçalves, Ana Célia; Freitas, CarinaIntroduction: SARS-CoV-2 infection can manifest with neuropsychiatric symptoms since the virus can reach the central nervous system. As for the occurrence of memory disorders in these patients, data are very scarce in the literature.Case Description: We describe the clinical case of a male adolescent who presented amnesia after infection with SARS-CoV-2. The amnesia had a peculiar pattern, not described in the literature. The neurological exam and complementary diagnostic exams showed no changes. The most likely diagnosis was Dissociative Amnesia. The patient was medicated with psychotropic drugs, with remission of symptoms.Discussion: Psychiatric disorders have been associated with COVID-19 infection, as well as with the pandemic state itself. It is assumed that the etiology of amnesia could be multifactorial: due to the direct effect of the virus and due to the negative impact associated with the pandemic. With this case report, we question the role of SARS-CoV-2 infection in mental health.
- Methylphenidate-induced dyskinesia, an underrecognized adverse effect In ADHD treatmentPublication . Pinheiro, Teresa; Maia, CarlaAttention deficit hyperactivity disorder (ADHD) is one of the leading mental and behavioral disorders in childhood and adolescence and remains a clinical challenge for healthcare professionals. Methylphenidate (MPH) is the first-line pharmacological treatment option for children over six years of age, but it is not without side effects. While the most common are mild and reversible upon therapy discontinuation, less recognized complications may occur, such as MPH-induced dyskinesia. Dyskinesia may present acutely, with the sudden onset of involuntary movements shortly after MPH administration (acute dyskinesia) or tardively, developing gradually after weeks of treatment (tardive dyskinesia). The cause of this drug-induced effect remains unclear. Herein is reported the first case in the literature of a patient with ADHD who developed symptoms of acute and tardive dyskinesia while receiving MPH. This case highlights the importance of awareness and early recognition of this rare but potentially stigmatizing adverse effect.
- Newborn Epiphysiolysis of the Proximal HumerusPublication . Cunha, Mafalda; Silva, Marco Francisco; Sousa, Vítor; Melo, Bruna; Costa, Helena Reis; Azevedo, Maria JoãoMusculoskeletal injuries resulting from childbirth trauma, including humeral head epiphysiolysis, are rare. This case report describes the clinical presentation, diagnostic evaluation, treatment, and mid-term follow-up of a premature male newborn with humeral head epiphysiolysis due to birth trauma. The infant exhibited limited left shoulder mobility and internal rotation preference. An ultrasound confirmed epiphyseal detachment, informing conservative treatment without immobilisation. Over time, bone callus formation with concurrent humeral deformity was observed. Rehabilitation and postural recommendations were implemented to encourage normal limb mobility and function, while minimising the risk of growth plate anomalies. By the age of one year, the child presented with harmonious limb movements, and normal strength and psychomotor development, with nearly complete resolution of the structural alterations.This case underscores the importance of considering humeral head epiphysiolysis in the differential diagnosis of newborns with impaired upper limb mobility, despite being a rare condition. The ultrasound exam proved valuable for diagnosis, and conservative treatment yielded positive outcomes. Regular radiographic monitoring may be necessary in these cases to control the progress of bone remodelling and development. Clinicians should be aware of this condition to ensure timely and appropriate management, ultimately leading to favourable clinical, functional, and radiological outcomes.
- Becker Muscular Dystrophy in Pediatric Population: Diagnosis, Genetic Variability, and Disease ProgressionPublication . Ribeiro, Mário; Silva, Joana; Gonçalves, Ana; Santos, Manuela; Garrido, CristinaIntroduction: Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease caused by variants in the DMD gene that leads to progressive muscle weakness, dilated cardiomyopathy, and neurodevelopmental issues. Objective: To characterize patients with BMD from a pediatric neuromuscular disease center. Methods: Retrospective and descriptive study of BMD patients diagnosed between January 1995 and May 2024. Results: A total of 22 male cases were identified, with 9/22 reporting family history of BMD. First symptoms appeared at a median age of 3.0 years (IQR 4.5) and included unstable gait (5/22), fatigue (5/22), myalgias (4/22), asymptomatic elevation of creatine kinase (3/22), delayed motor development (3/22), and myoglobinuria (2/22). Average age at diagnosis was 7.7 years (IQR 5.6). The most frequent genetic alteration was a deletion involving exon 48 of the DMD gene (8/22). The developmental issues identified were intellectual disability (5/22), attention-deficit/hyperactivity disorder (ADHD) (3/22), autism spectrum disorder (1/22), and specific language impairment (1/22). Dilated cardiomyopathy developed at pediatric age in 1 patient, and 3 started corticosteroid therapy owing to worsening motor symptoms. The average follow-up time was 8.7 years (SD 1.1). Conclusion: The phenotypic variability of BMD complicates its diagnosis, but early recognition is crucial for conducting appropriate monitoring and genetic counseling as well as family studies. Our findings highlight the need for multidisciplinary follow-up, particularly due to the significant prevalence of neurodevelopmental problems.
- Congenital syphilis — preventable, yet increasing: 10-year data from a secondary hospital in Azores, PortugalPublication . Sousa, Maria; Vasco, João; Alveirinho, Filipa; Noites, Inês; Fraga, Beatriz; Pacheco, Lucinda; Monteiro, isabelIntroduction: Congenital syphilis (CS), which resultss from vertical transmission of Treponema pallidum, presents a broad spectrum of clinical manifestations in neonates. It’s effective control relies on early maternal diagnosis and treatment during pregnancy. Materials and methods: We conducted a retrospective and descriptive study of CS cases in the Neonatal Intensive Care Unit (NICU) of Hospital do Divino Espírito Santo in Ponta Delgada, Azores, between 2013 and 2022. We reviewed the medical records of all discharged patients with CS, defined according to the 2021 Centers for Disease Control and Prevention guidelines. Demographic, clinical, and laboratory data on both mothers and newborns were collected. Results: Twenty newborns with suspicion of CS were admitted to the NICU between 2013 and 2022. The incidence of CS was stable until 2020, with 0–2 cases per year. From 2020 onwards, there was an exponential increase in the number and severity of cases. Fifteen pregnancies were followed up exclusively in primary care, while four were monitored through outpatient appointments offered by the hospital’s high-risk obstetrics service. Mothers were adequately treated in seven cases. Four newborns were born before 37 weeks of gestation, and two between 28 and 32 weeks of gestation. Four newborns presented with severe forms of CS, one of which died. The most common manifestation of CS was jaundice (11/55%); abnormal hepatic parameters were observed in 14/70% of the newborns. Bone involvement was seen in 4/20% newborns. All were treated with penicillin G (median of 14 days, 95% Confidence Interval [CI] 10-14), and CS was confirmed in nine cases (45%).Discussion and conclusions: An increase in CS was observed from 2020 to 2022, with most pregnancies lacking proper referral or treatment, which is in line with international reports. Prompt diagnosis and appropriate treatment of the mothers can prevent this serious and potentially fatal disease in newborns.