Rare Diseases

The Pediatrician’s Role in Identifying and Understanding Fabry Disease

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Robert J. Hopkin, MD, Associate Professor of Clinical Pediatrics at Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine - Discussing the unique challenges in identifying Fabry disease and what key signs and symptoms of which pediatricians should be aware - The importance of family history and genotyping - Understanding the differences of Fabry disease in males and females - Enzyme replacement therapy - Organ specific treatment and symptom management - Treatment for Fabry disease is a complex subject

The Pediatrician’s Role in Understanding and Diagnosing Gaucher Disease

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0:57
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Dr Pramod Mistry, MD, PhD, FRCP, Professor of Medicine and Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment - Introduction on Gaucher disease, the first subtype of lysosomal storage diseases that had an effective enzyme replacement therapy. Discuss current diagnostic methods. Give pediatricians a basic understanding of the main diagnostic procedures for Gaucher disease to prevent costly delays in diagnosis that prevent patients from prompt treatment. Consequences of delayed diagnosis and treatment.

When common complaints are the signs of Lysosomal Storage Diseases

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At the end of the Session participants will: (1) Understand the signs and symptoms of lysosomal storage diseases. (2) Have the ability to identify the key diagnostic features and differentiate them from more common diseases. (3) Evaluate the ‘next steps’ to take after a diagnosis and how to maximize treatment for the patient.

Faculty: 
UMA RAMASWAMI
Moderator: 
ATHIMALAIPET RAMANAN
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8th Excellence in Pediatrics, London 8-10 December 2016
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Practical advice on spotting the signs of Rare Diseases and Chronic Conditions in the everyday practice

When Common Complaints are the Signs of Lysosomal Storage Diseases – Identifying LSDs

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0:55
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Dr. Amel Karaa, Clinical Director, Lysosomal Storage Diseases Program, Massachusetts General Hospital & Instructor of Medicine, Harvard Medical School - Aimed at frontline pediatric healthcare professionals, attendees will acquire a better understanding of the signs and symptoms of lysosomal storage diseases (LSDs) including the ability to identify the key diagnostic features of LSDs and differentiate them from more common diseases. Pediatricians will learn the appropriate ‘next steps’ to take after a diagnosis and how to maximize treatment for the patient.

Lysosomal Storage Diseases Clinical Recognition, Diagnosis and Management

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0:10
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Lysosomal Storage Diseases
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This is an accredited eLearning course. User engagement 1 Hour. The course covers the assessment of lysosomal storage diseases, their prevalence and lifetime consequences. Learn how lysosomal storage diseases matter, and what their underlying causes are.

[OP2.3-16] Clinical Case: Berardinelli-Seip Syndrome in a 5 Month Old Child

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Minira Bulegenova, Olzhas Abdrakhmanov, Gaukhar Adamova
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Lipodystrophies are heterogeneous inherited or acquired disorders that are characterized by selective loss of adipose tissue and a predisposition to developing insulin resistance and its associated complications, such as diabetes mellitus, hypertriglyceridaemia and hepatic steatosis. The clinical diagnosis of lipodystrophy is made on the basis of a physical examination. Level loss of adipose tissue should be measured in a clinic, but is not crutial for the diagnosis. The prognosis for this disease is poor and patients suffer from a severe form of diabetes.

Clinical case: Child R.N., 05.15.2015, was charged in Scientific Center of Pediatrics and children surgery (SCPCS) with preliminary diagnosis: Malabsorption syndrome, fermentopathy, malnutrition, celiac disease. Complaints at admission: fatigue during feeding, weakness, anxiety, unstable stool (8 times a day), abdominal distension.

Health status at admission: Weight of the child was in compliance with the age, therefore, the diagnosis of malnutrition was disputable. However, a child had a elongation of the upper and lower extremities, enlargement of foot, hands. Hypertrophy of the muscular tissue of the upper and lower extremities with severe hypotrophy of gluteal muscles. Hypertrichosis, premature teething, hyperpigmentation in the axillary and inguinal regions. The enlargement of the external genitalia. Progeroid like phenotype. Hepatosplenomegaly. The following competing diagnoses were proposed: lysosomal acid lipase deficiency, progeria, celiac disease, pituitary microadenoma. The biochemistry analyses revealed the considerable increase of the total protein, a significant hypertriglyceridemia, high atherogenic index (12.3), high levels of LDL (up to 320 U/ml), cholesterol within references parameters. X rays the bones: without marked changes, bone age corresponds to the patient’s age. MRI of the abdomen and pelvic organs: a significant increase of the liver, the lower contour of the right lobe is located below the iliac crest, left lobe shifted the spleen downward.

Consilium conclusion: the diagnosis of acid lipase deficiency was disputable due to the lack of pathognomonic features of this disease. The study of acid lipase and beta-galactosidase activity was carried out on the basis of “Medical Genetic Research Center” Moscow, Russia. The enzyme activity in dried blood spots was within the reference range. The final diagnosis could be established only after a genetic test to identify the mutations that characterize the 4 main types of congenital generalized lipodystrophy. A homozygous mutation c.823C>T (p.R275*) on the BSCL2 gene was identified, which corresponds to the type 2 of congenital generalized lipodystrophy. Despite the fact that the second type of congenital lipodystrophy is more common than other types of the disease in the Kazakh population it was identified and confirmed for the first time. Since the prognosis of congenital lipodystrophy is unfavorable, specific therapy with Metreleptinshould be conducted. At the moment, the child’s condition is stable and is under the supervision of pediatricians

Scientific center of pediatrics and children surgery, Kazakhstan; mbulegenova@yandex.ru

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[OP2.2-16] Classic Galactosemia – An Unusual Form of Presentation

Author: 
Catarina Melo Borges 1, Tânia Filipa dos Santos Mendo 1, Sónia Cristina Pereira Fernandes 1, Cláudia Dias da Costa 2, Laura Ferreira Teixeira Vilarinho 3, Isabel Antolin Rivera 4, Ana Maria Simões Mendes Gaspar 2, Maria de Fátima Piedade Álvares Furtado 1
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Introduction: Classic galactosemia is a genetic condition, occurring in approximately 1 in 60,000 livebirths, inherited in an autosomal recessive pattern, associated with mutations in the GALT gene mutations, which predisposes to a compromised ability to metabolize galactose. It usually presents in the first days of life with jaundice, vomiting, hepatomegaly, failure to thrive, poor feeding, diarrhoea and sepsis. Although in some countries, its screening is routinely performed by newborn screening (NBS) program that does not happen in Portugal.

Clinical Case: We describe the case of a 2-month-year-old male child, without inbreeding and no relevant prenatal background, except for a minor unilateral hydronephrosis. He was admitted in our emergency department with paroxysmal nonepileptic events, mostly feed related, frequent regurgitation and failure to thrive. On physical examination, plagiocephaly and torticollis were noticed. Routine medical exams performed were normal, except for proteinuria. After medical discharge, he was referred to our out-patient clinic. His clinical evolution was characterized with maintenance by failure to thrive and developmental delay and Metabolic Disease Unit evaluation was requested. Inborn errors of metabolism (IEM) investigation revealed CDT > 5,3% (VR<2,6%), and renal tubular dysfunction. Urinary organic acids, sugars and polyols chromatographs where done. Ophthalmic evaluation was unremarkable. Brain MRI suggested IEM affecting mainly the white matter. Meanwhile CDG gene panel was inconclusive. A secondary CDG alteration where considered. Urinary profiles showed: polyol accumulation with Galactitol, 201mmol/mol Creatine (VR 6-71) and total Galactose on Guthries NBS was high: 36mg/dL e 52.3mg/dL. Compound heterozygosity mutation for Classic Galactosemia was detected. Galactose-restricted diet was initiated with great improvement in both his growth and development. CDT and urinary profile normalised and eGALP1P is now in good metabolic control reference pattern. Brain MRI was repeated by the age of two and significant regression of the signs seen before was noticed.

Conclusion: This case reveals an unusual form of presentation for a treatable disease. In our country Galactosemia is not on NBS panel so it was a diagnostic challenge that we have to consider when we have CDG profile alterations.

1Lower Alentejo Local Health Unit, Hospital José Joaquim Fernandes, Beja; 2Metabolic Diseases Unit, Pediatric’s Department of Santa Maria’s Medical Academic Centre, Hospital CHLN EPE, Lisbon; 3Metabolism and Genetics, Newborn Screening Unit, Human Genetic Department, Instituto Nacional de SaЬde Dr. Ricardo Jorge, OPorto; 4Metabolism and Genetics Laboratory, Pharmacy Faculty, University of Lisbon; borgescatarinamelo@gmail.com

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Initiatives - Mission

Our mission and targets

Patients with Rare Diseases often present with common symptoms that are overlooked, treated individually or misdiagnosed, delaying appropriate treatment. The Excellence in Paediatrics Institute has twice surveyed pediatric healthcare professionals globally and found that only 63% identified juvenile idiopathic rheumatoid arthritis as a disease that is commonly confused with the LSD MPS I (Hurler-Scheie). Failure to recognise symptoms can significantly delay diagnosis. For example, diagnosis of Fabry disease is delayed an average of 15 years after clinical presentation, and a review of 13 patients with mild MPS I (Sheie) found diagnosis was delayed 4 to 54 years. The Excellence in Pediatrics Rare Diseases Initiative proposes strategies and actions medical communities, policymakers, and governments can take to aid the early diagnosis of Rare Diseases and appropriate referrals by front-line pediatric clinicians. Pediatricians and family doctors are likely to be the first healthcare professionals to observe symptoms of Rare Diseases, and it is important to help these front-line clinicians suspect, diagnose, and refer patients particularly when Rare Diseases that are treatable occur. Prompt treatment reduces mortality as well as morbidity including irreversible physical and cognitive damage. In addition treatments enhance the quality of daily life significantly. Diagnosis of heritable diseases also helps identify family members who need treatment and facilitates informed family planning. The Initiative is aiming to help front-line clinicians to suspect, diagnose, and refer patients when a Rare Disease that has the potential for treatment occurs.