scholarly journals Disseminated Nannizziopsis Infection in an Adolescent With a STAT1 Mutation

2020 ◽  
Vol 7 (9) ◽  
Author(s):  
Zachary M Most ◽  
Tiffany Lieu ◽  
Laura Filkins ◽  
Rory Nicolaides ◽  
Dinesh Rakheja ◽  
...  
Keyword(s):  
Failure To Thrive ◽  
Genetic Sequencing ◽  
Cuboid Bone ◽  
Brain Abscesses

Abstract An adolescent with failure to thrive developed cuboid bone osteomyelitis and brain abscesses. Mold isolated from both locations was identified by universal genetic sequencing as Nannizziopsis spp, which is typically a pathogen of reptiles. The patient was subsequently diagnosed with a STAT1 mutation and was successfully treated.

Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature

2017 ◽  
Vol 48 (06) ◽  
pp. 456-462 ◽  
Author(s):  
Oded Scheuerman ◽  
Rachel Straussberg ◽  
Nesia Kropach ◽  
Vered Shkalim-Zemer ◽  
Naama Orenstein
Keyword(s):  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Developmental Delay ◽  
Novel Mutation ◽  
Medical Center ◽  
Relevant Literature ◽  
Failure To Thrive ◽  
Genetic Studies ◽  
Genetic Sequencing ◽  
Mitochondrial Dna Depletion

Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness. Results Genetic sequencing of the RRM2B gene revealed the same novel mutation in both the siblings. Both children died due to respiratory failure at ages 3 and 2.5 months, respectively. Conclusion The combination of neonatal hypotonia, developmental delay, and lactic acidosis should raise a clinician's suspicion of a mitochondrial depletion disorder and prompt further genetic studies.

Epidemiologic and Definitional Issues in Failure to Thrive

1993 ◽  
Vol 2 (1) ◽  
pp. 37-59 ◽  
Author(s):  
David Skuse
Keyword(s):  
Failure To Thrive

Diagnosis and therapy of brain abscesses

1999 ◽  
Vol 56 (11) ◽  
pp. 659-663 ◽  
Author(s):  
Nau ◽  
Behnke-Mursch
Keyword(s):  
Operative Verfahren ◽  
Diagnosis And Therapy ◽  
Brain Abscesses

Die verursachenden Erreger von Hirnabszessen variieren in Abhängigkeit von der Grunderkrankung. Typisch sind Mischinfektionen aus Aerobiern und Anaerobiern. Hirnabszesse entwickeln sich meist subakut. Sensibelster Entzündungsparameter im Blut ist das C-reaktive Protein (bei 80–90% der Patien-ten erhöht). Die entscheidende diagnostische Maßnahme ist das kraniale CT ohne und mit Kontrastmittel (KM). Die rasche Kultur von Abszeßinhalt durch Punktion, Drainage oder Abszeßexzision ist entscheidend für die Erregeridentifikation. Eine alleinige Chemotherapie zur Abszeßbehandlung wird nur angewandt, wenn 1. multiple, tief gelegene und/oder sehr kleine Abszesse vorliegen oder 2. sich der Patient in einem so schlechten Allgemeinzustand befindet, daß ihm ein invasiver Eingriff nicht zugemutet werden kann oder 3. eine Hirnphlegmone und kein abgekapselter Abszeß vorliegt. Gebräuchliche operative Verfahren sind die Abszeßaspiration (meist nach stereotaktischer Abszeßpunktion), die offene Kraniotomie mit Abszeßexzision und die offene Abszeßevakuation ohne Kapselentfernung. Für die ungezielte Chemotherapie vor Erregernachweis bevorzugen wir die Kombination von Cefotaxim (3×2–4 g/d i.v.) mit Metronidazol (3–4×0,5 g/d i.v.). Kortikosteroide sind indiziert, wenn der Prozeß raumfordernd ist und eine Herniation droht oder multiple Abszesse vorliegen, die nur teilweise operativ angehbar sind, oder Hirnregionen mit besonderer Ödemneigung betroffen sind.

Nutritional B12 Deficiency in Infants of Vitamin B12-Deficient Mothers

2011 ◽  
Vol 81 (5) ◽  
pp. 328-334 ◽  
Author(s):  
Oya Halicioglu ◽  
Sezin Asik Akman ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Meral Turker ◽  
...  
Keyword(s):  
Megaloblastic Anemia ◽  
Maternal Diet ◽  
Clinical Manifestations ◽  
Serum Vitamin ◽  
Failure To Thrive ◽  
Clinical Findings ◽  
Vitamin B ◽  
Animal Products ◽  
Hematological Evaluation ◽  
Nutritional Vitamin

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.

Failure to Thrive or Thriving in Failure?

PsycCRITIQUES ◽  
2009 ◽  
Vol 54 (17) ◽  
Author(s):  
Robert A. Bischoff
Keyword(s):  
Failure To Thrive

Device Closure of Ventricular Septal Defect with Amplatzer Muscular Occluder: A Case Report

1970 ◽  
Vol 25 (3) ◽  
pp. 161-163
Author(s):  
Nurun Nahar Fatema ◽  
Mamunur Rahman ◽  
Mujubul Haque
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Failure To Thrive ◽  
Military Hospital ◽  
Device Closure ◽  
Residual Shunt ◽  
Muscular Ventricular Septal Defect ◽  
Cardiac Centre ◽  
History Of ◽  
Observation Period

A four year old girl was diagnosed as a case of mid muscular Ventricular Septal Defect (VSD) since early infancy. She had history of failure to thrive (FTT) and recurrent chest infection or pneumonia. As her pulmonary artery pressure was almost normal she was planned for device closure on elective basis once device and technology would be available in cardiac centre of combined Military Hospital (CMH) Dhaka. Finally it was done on 21st August 2005 and patient was discharged after 72 hours observation period. Echocardiography on next morning showed complete occlusion of defect with no residual shunt. (J Bangladesh Coll Phys Surg 2007; 25 : 161-163)

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