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Pancytopenia - Developmental Delay Syndrome
BMFS2

Presentation

Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. [books.google.de]

Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome... Poster presentations: 2. [connection.ebscohost.com]

present with nosebleeds, bruising and petechiae (because of thrombocytopenia). [patient.info]

Diagnosis of cancer can be the initial presentation. [verywell.com]

Workup

Any signs of developmental regression should be regarded as a medical emergency and an urgent medical workup is indicated. [learn.pediatrics.ubc.ca]

Treatment

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.de]

TREATMENT There is no cure for this disorder. Treatment is symptom specific and supportive. Aplastic anemia and immunodeficiency are treated with bone marrow/stem cell transplantation. [secure.ssa.gov]

Prognosis

The prognosis is poor due to the severity of the disease course. Progressive bone marrow failure occurs in over 80% of cases and is the primary cause of early mortality. TREATMENT There is no cure for this disorder. [secure.ssa.gov]

MDS and AML in patients with SDS has a poor prognosis, with a survival rate of < 20%. Inborn conditions Rare reports of increase in spontaneous chromosomal breakage. [atlasgeneticsoncology.org]

A poor prognosis exists for intellectual development with early-onset seizures and inadequately controlled seizures. The diagnosis of Lowe syndrome is compatible with normal intelligence. [emedicine.medscape.com]

Prognosis [ 7, 8 ] Type 1: very variable disease severity. Type 2 (acute neuronopathic): rapidly progressive with death during infancy. [patient.info]

Understanding the genetic and molecular background of BMFS helps determine an accurate diagnosis, prediction of disease prognosis and specific management. [omicsonline.org]

Etiology

In addition, some of the etiologies are genetically transmitted and may affect future family members. [pedclerk.bsd.uchicago.edu]

This suggested that a defect in telomere maintenance could be involved in the etiology of this disease. [journals.plos.org]

An underlying etiology for developmental delay should be sought through attention to the following clues on history: Prenatal history Complications Prenatal diagnoses made (eg. Down Syndrome) Infections (eg. TORCH) Exposures (eg. [learn.pediatrics.ubc.ca]

In this review, we discuss the etiology, pathogenetic mechanisms, clinical features and current management of each blood disorder mentioned above. [frontiersin.org]

All patients (N=264) Age, years, median (range) 9.0 (0.8-17.4) Gender, n (%) Male 155 (59) Female 109 (41) Etiology, n (%) Idiopathic 227 (86) Hepatitis-associated 37 (14) Severity, n (%) Moderate 81 (31) Severe 75 (28) Very severe 108 (41) Type of ATG [slideshare.net]

Epidemiology

Young NS, Kaufman DW (2008) The epidemiology of acquired aplastic anemia. [omicsonline.org]

This is less rapidly progressive neurovisceral storage disease, causing death in childhood or early adulthood. [ 4 ] Epidemiology All three subtypes are inherited as autosomal recessive traits. [patient.info]

Johnson LG, Madeleine MM, Newcomer LM, Schwartz SM, Daling JR (2004) Anal cancer incidence and survival: the surveillance, epidemiology, and end results experience, 1973–2000. Cancer 101: 281–288. View Article Google Scholar 40. [journals.plos.org]

Pathophysiology

The pathophysiology is not understood; it has been associated with agenesis of the corpus callosum and hypothalamic lesions. Shapiro syndrome appears to represent an altered “set point” of central thermoregulatory mechanisms. [neurology.org]

Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management, Vol 2; published by BC Decker, Philadelphia 1989. Lopez MJ, Grand RJ. Hereditary and Childhood Disorders of the Pancreas. [shwachmandiamondamerica.org]

Bejar R, Levine R, Ebert BL (2011) Unraveling the molecular pathophysiology of myelodysplastic syndromes. J ClinOncol 29: 504-515. [omicsonline.org]

This observation has suggested a common pathophysiology in bone marrow dysfunction and leukemogenesis. As reported, these disorders are otherwise quite distinct. [clincancerres.aacrjournals.org]

The pathophysiology results from depressed synthesis or remodeling of oligosaccharide moieties of glycoproteins. The ultimate result is the formation of abnormal glycoproteins affecting their structure and metabolic functions. [lymphedemapeople.com]

Prevention

In Shwachman-Diamond syndrome (SDS), a defective SDBS protein prevents eIF6 eviction, inhibiting its recycle to the nucleus and subsequent formation of the active 80S ribosome. [jmg.bmj.com]

Can Developmental Delay Be Prevented? Since there are so many different conditions that can lead to developmental delays, there isn’t one “right way” to prevent developmental delay. [mychildwithoutlimits.org]

The genetic defect in Fanconi Anemia prevents the chromosomes from being able to repair themselves properly leading to bone marrow failure and cancer at an early age. [verywell.com]

Prevention In rare cases, Angelman syndrome may be passed from an affected parent to a child through defective genes. [mayoclinic.org]

Other therapies include androgens to raise the hemoglobin and platelet count, G-CSF and GM-CSF for neutropenia Definitive treatment includes bone marrow transplant for marrow failure in FA patients. 5 Preventive measures can be taken by prenatal testing [banglajol.info]

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