Andreia Forno

Longitudinal Phenotypic Trajectories in GNAO1 ‐Related Disorders: Defining Disease Progression and Clinical Profiles

Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros et autres

OBJECTIVE: Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1-related disorders (GNAO1-RD) to delineate phenotypic trajectories. METHODS: Sixty-six individuals with …

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A severe case of GNAO1-related disorder

Andreia Forno, Fiona Nóbrega Caldeira, Kaylene Freitas, Paulo Jorge Sousa

Child Neurology: TRAPPC4-Related Neurodevelopmental Disorder

Andreia Forno, Joana Oliveira, Marta Zegre Amorim, Carla Ribeiro Conceição et autres

Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, first described in 2020, is associated with autosomal recessive inheritance of pathogenic variant in the TRAPPC4 gene. Given a relatively high carrier frequency, it is crucial to recognize and consider this diagnosis. We report …

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Association between Rhabdomyolysis and RHOBTB2 Encephalopathy

Fiona Nóbrega Caldeira, Kaylene Freitas, Andreia Forno, C. Neves A. Cardoso

First described in 2018, heterozygous variants of the RHOBTB2 gene, affect the translation of a Rho GTPase protein, essential in neuronal development and synaptic plasticity. The few cases described are characterized by a clinical spectrum of epileptic encephalopathy, psychomotor and cognitive delay, …

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Acute Suppurative Thyroiditis in Childhood: An Atypical Presentation

Beatriz Câmara, Catarina Andrade, Andreia Forno, Marta Belchior Lopes et autres

Neck stiffness is a common clinical sign in children presenting to the emergency department that may indicate a wide variety of diagnoses. Acute suppurative thyroiditis (AST) is an infection of the thyroid gland caused by a bacterium, virus, or, less commonly, fungus. …

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New Pathogenic Mutations on GLDC gene leading to Classic Nonketotic Hyperglycinemia

Teresa Almeida, Isabel Tavares de Almeida, Andreia Forno, Luís Rodrigues et autres

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Wernicke Encephalopathy in Children

Andreia Forno, Bruno Cunha, Catarina Luís, Ana Costa e Castro et autres

Introduction : Wernicke Encephalopathy (WE) is an acute neurological disorder caused by thiamine deficiency. Usually associated with alcoholism in adults, WE can also occur in children with other etiologies.1 The classic triad of symptoms is present in a small number of patients. …

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Issacs Syndrome in a Pediatric Patient and Voltage-Gated Potassium Channels Antibodies

Andreia Forno, Alexandra Rodrigues, Rui Vasconcellos, P Sousa

Pratical implicationsConsider Isaacs' syndrome in children with disabling myalgia and undulating skin surface movements, called myokymia, even with negative VGKC antibodies.

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Diffuse infantile hepatic haemangioma—how to manage an incidental but potentially lethal finding

Alexandra Rodrigues, Andreia Forno, Edite Costa, Alberto Berenguer et autres

Infantile hepatic haemangioma (IHH) is a rare vascular tumour that is potentially lethal due to its associated complications, including heart failure, hepatic failure, hypothyroidism and abdominal compartment syndrome. The authors report a case of an asymptomatic diffuse IHH in a newborn male, …

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Abstracts from the Food Allergy and Anaphylaxis Meeting 2016

G. Pouessel, Claire Claverie, Julien Labreuche, Jean‐Marie Renaudin et autres

Introduction: Incidence of anaphylaxis is increasing.Data regarding anaphylaxis mortality are limited, but conflicting.Our objective was to document anaphylaxis mortality rate (deaths per million population), time trends and specificities according to triggers (iatrogenic, venom, food, unknown), age groups, sex and geographical regions (North …

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Post-Translational Modification of Recombinant Human GM-CSF Expressed by Stable-Transfected CHO Cells under Different Culture Conditions

Andreia Forno, Marina Etcheverrigaray, Manfred Nimtz, Ricardo B. Kratje

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