scholarly journals Infants with failure to thrive, only symptom of a rare disorder: pseudohypoaldosteronism, case series

2020 ◽  
Author(s):  
Dilara Ceylan
Keyword(s):  
Case Series ◽  
Failure To Thrive ◽  
Rare Disorder

BIRDS OF THE SAME FEATHER DO NOT ALWAYS FLOCK TOGETHER: AN ADRENAL CASE SERIES

2021 ◽  
pp. 81-82
Author(s):  
Ansari SS ◽  
Nayak PN ◽  
Sudhir S ◽  
Shirodkar D
Keyword(s):  
Case Series ◽  
Failure To Thrive ◽  
Optimal Dose ◽  
Bone Age ◽  
Rete Testis ◽  
Laboratory Evaluation ◽  
Adrenal Crisis ◽  
Salt Wasting ◽  
Adrenal Rest Tumor ◽  
Adrenal Rest

Introduction: Most common adrenocortical biosynthetic defect is 21-hydroxylase deciency usually presenting as atypical genitalia at birth in girls and adrenal crisis in males at 2-3 weeks of age. We present to you a case series of congenital adrenal hyperplasia(CAH) with heterogeneous presentation at varied ages.Case 1:Thirty-six-day old baby presented with atypical genitalia, failure to thrive and shock. Laboratory evaluation revealed:hyperkalemia, hyponatremia, markedly elevated 17OH-progesterone(24200ng/dl)and karyotype 46XX.Case 2: One-year-4-month old boy known case of salt-wasting CAH who was on regular oral hydrocortisone and udrocortisone brought with the acute gastroenteritis. Investigations revealed elevated markers for sepsis, hypocortisolemia(1.37 mcg/dl) and high 17-OH-progesterone(588 ng/dl). Case 3: Five-year10-month old boy, known case of salt-wasting CAH on irregular medication and poor compliance presented with enlarged penile length. On evaluation his SMR staging=A1P3TV4/4ml, Height age:7.6 year and bone-age was 11.6 years. Endocrine evaluation demonstrated gonadotropinindependent precocity(Testosterone=109ng/dl, FSH=0.31 IU/ml, LH<0.10 IU/ml, 17-OH-Progesterone:25400ng/dl).Scrotal ultrasound showed hypoechoic areas in rete-testis suggestive of probable tesicular-adrenal-rest-tumor(TART).All patients were treated with hydrocortisone, udrocortisone and uid resuscitation.Conclusion:Diagnosis of CAH doesn't always depend on atypical genitalia. Continued adherence to the optimal dose of steroids, regular monitoring and strict advice during illness is as important as appropriate and timely management of the adrenal crisis.

Six Patients with MethylmalonicAcidemia and Their Outcome: A Literature Review and Case Series

2020 ◽  
Author(s):  
Naser Ali Mirhosseini ◽  
Sana Taghiyar ◽  
Mahdieh Saatchi
Keyword(s):  
Metabolic Acidosis ◽  
Quantitative Analysis ◽  
Progressive Failure ◽  
Clinical Manifestations ◽  
Case Series ◽  
Failure To Thrive ◽  
Feeding Problems ◽  
Urinary Organic Acid ◽  
Severe Metabolic Acidosis ◽  
Recurrent Vomiting

Background: Methylmalonic acidemia (MMA) is a congenital disorder due to the defects in the propionate pathway. It results from a deficiency in methylmalonyl coenzyme A mutase or one of the steps of the synthesis of the cobalamin (B12) cofactors for the enzyme. There is deficiency of methylmalonylcoAmutase (MCM) in the classic MMA. It presents with severe metabolic acidosis in the first month of life, progressive failure to thrive, feeding problems, recurrent vomiting, dehydration, hepatomegaly, lethargy, seizures, and developmental delay. Quantitative analysis of urinary organic acid patterns by GC-MS is used in MMA diagnosis. Treatment with large doses of hydroxocobalamin is helpful in some cases of MMA.                                                                                        Case presentation:We Reported 6 patients with MMA with a variety of clinical manifestations and outcomes. Conclusion: The overall prognosis of classic MMA remains doubtful, whereas vitamin B12 responsive MMA has a reasonable outcome.

scholarly journals Spontaneous cervical swelling syndrome as a rare cause of neck edema: case series and literature review

2021 ◽  
Vol 2021 (5) ◽  
Author(s):  
Albrecht Betrains ◽  
Robert Hermans ◽  
Olivier Gheysens ◽  
Vincent Vander Poorten ◽  
Willy E Peetermans ◽  
...  
Keyword(s):  
Literature Review ◽  
Biochemical Analysis ◽  
Case Series ◽  
Acute Onset ◽  
Rare Disorder ◽  
Adult Women ◽  
Supraclavicular Fossa ◽  
Cervical Swelling ◽  
Tracer Accumulation ◽  
Acute Event

ABSTRACT Spontaneous cervical swelling syndrome (SCSS) is a rare disorder characterized by unprovoked, self-limiting and often unilateral cervical edema. SCSS is a recurrent disorder that predominantly affects adult women and is not associated with laboratory abnormalities. We report on eight female patients with a mean age of 56 (38–82) years at the time of the first presentation. The episodes were characterized by an acute onset in all patients and had a mean duration of 3.8 (1–7) days. Biochemical analysis did not reveal any related abnormalities. Imaging of the neck and chest demonstrated diffuse edema in the supraclavicular fossa and left infrahyoid region in all patients. At the time of the acute event, lymphatic scintigraphy revealed tracer accumulation in the left supraclavicular region in three patients and could not demonstrate any abnormalities in the in-between episodes in two patients.

HOLT-ORAM SYNDROME: RARE CASE SERIES

2021 ◽  
pp. 46-47
Author(s):  
Mahendar Reddy Muskula ◽  
Roshin P ◽  
Ajay J ◽  
Sanjeev Chetty
Keyword(s):  
Congenital Heart Defects ◽  
Upper Limb ◽  
Rare Case ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Case Series ◽  
Rare Disorder ◽  
Autosomal Dominant Disorder ◽  
Limb Malformations

The upper limb malformations in association with congenital heart defects occurring as autosomal dominant disorder are seen in Holt-Oram syndrome. It is a very rare disorder which can be detected with early prenatal ultrasound checkups. Here we are reporting two cases of holt-oram syndrome

scholarly journals Marginal acrokeratoderma: a case series

2020 ◽  
Vol 6 (5) ◽  
pp. 670
Author(s):  
Perpetua U. Ibekwe ◽  
Adebola O. Ogunbiyi
Keyword(s):  
Genetic Basis ◽  
Clinical Presentation ◽  
Case Series ◽  
Rare Disorder ◽  
Gene Defect ◽  
Palmoplantar Keratoderma ◽  
Complex Disorders ◽  
The Family ◽  
Hands And Feet

<p>Marginal acrokeratoderma (MAK) are complex disorders characterized by distribution of cornified papules/plaques along the dorso-plantar and dorso-palmar junction of the feet and hands. They belong to the family of punctate palmoplantar keratoderma. No associated gene defect has been detected. There are two clinically identical types of hereditary/familial MAK; namely acrokeratoelastoidosis (AKE) and focal acral hyperkeratosis (FAH); differentiated by the presence of elastorrehexis in AKE. The aim of this article is to report MPK lesions that are not included in the familiar groupings of punctate and polygonal papules. We described thirteen cases and reviewed the literature. Average age at presentation was 24 years, age ranged from 5 to 79 years. Majority of our cases had lesions on only their feet, that of FAH had lesions on only their hands and AKE had lesions on both hands and feet. Although most lesions reported in literature with FAH and AKE were characterized as 2-5mm flesh-colored to yellowish flat-topped/polygonal, keratotic/punctate papules, coalescing into plaques, we also reported lesions that were keratotic with cracks, desquamating and cobble-stone in appearance. This case series calls for more studies on variations in clinical presentation of MAK lesions and an opportunity to revisit the genetic basis and investigate triggers of this rare disorder.</p>

Failure to Thrive in the Context of Carney Complex

2017 ◽  
Vol 89 (1) ◽  
pp. 38-46 ◽  
Author(s):  
Amit Tirosh ◽  
Adi Auerbach ◽  
Belen Bonella ◽  
Phaedon D. Zavras ◽  
Elena Belyavskaya ◽  
...  
Keyword(s):  
Liver Disease ◽  
Pediatric Patients ◽  
Cushing Syndrome ◽  
Case Series ◽  
Failure To Thrive ◽  
Carney Complex ◽  
Clinical Genetic ◽  
Retrospective Case ◽  
Laboratory Findings ◽  
Rare Syndrome

Background/Aims: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). Methods: A retrospective case series of pediatric patients with CNC presenting with FTT. Results: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC. This led to the realization that at least 10 other patients with CNC and FTT have been investigated in the last 22 years at the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Four of those had primary pigmented nodular adrenocortical disease (PPNAD), 2 had cardiac myxomas, and 3 had liver disease. Conclusion: Pediatric patients with CNC may present with FTT whose primary cause is variable and includes CS due to PPNAD, hepatic involvement, and other manifestations of CNC. FTT due to liver disease and/or other causes is a unique new presentation of this rare syndrome with which clinicians need to be familiar.

Acquired Hemophilia A: A Case Report

2019 ◽  
Vol 33 (4) ◽  
pp. 562-566 ◽  
Author(s):  
Mark Shen ◽  
Shan Wang ◽  
Julia Sessa ◽  
Adel Hanna ◽  
Alexander Axelrad ◽  
...  
Keyword(s):  
Case Report ◽  
Factor Viii ◽  
Hemophilia A ◽  
Factor Viia ◽  
Spontaneous Mutation ◽  
Case Series ◽  
Rare Disorder ◽  
Bleeding Complications ◽  
Acquired Hemophilia A ◽  
Acquired Hemophilia

Hemophilia A, also known as factor VIII deficiency, is a rare disorder caused by an insufficient level of factor VIII, an essential clotting protein. Hemophilia A can be inherited or acquired. Inherited hemophilia A is caused by a mutation to the factor VIII gene on the X chromosome, which is commonly passed down from parents to children. However, in about one-third of cases, the cause is a spontaneous mutation in that gene. Acquired hemophilia A is due to an autoantibody to factor VIII, which is termed an inhibitor. This rare disorder can cause life-threatening bleeding complications. Management relies on a rapid and accurate diagnosis, control of bleeding episodes, and eradication of the inhibitor by immunosuppression therapy. Most treatment strategies are centered around anecdotal reports or small case series. This case report summarizes the successful treatment of a patient with acquired hemophilia A and major bleeding following a surgical procedure, with the use of desmopressin, recombinant factor VIIa, repeated doses of recombinant factor VIII, rituximab, and prednisone.

Epidemiology of Pediatric Tracheostomy and Risk Factors for Poor Outcomes: An 11-Year Single-Center Experience

2019 ◽  
Vol 162 (1) ◽  
pp. 121-128 ◽  
Author(s):  
Aletheia Z. H. Chia ◽  
Zhi Min Ng ◽  
Yu Xian Pang ◽  
Annette H. C. Ang ◽  
Cristelle C. T. Chow ◽  
...  
Keyword(s):  
Risk Factors ◽  
Unit Length ◽  
Case Series ◽  
Failure To Thrive ◽  
Tertiary Hospital ◽  
Supplemental Oxygen ◽  
Interquartile Range ◽  
Factors Associated ◽  
Single Center Experience

Objective Children with long-term tracheostomies are at higher risk of complications. This study aims to describe the epidemiology, outcomes, and factors associated with successful decannulation in children undergoing tracheostomy. Study Design Case series with chart review. Setting Tertiary hospital. Subjects and Methods A retrospective analysis was conducted on pediatric tracheostomies performed from 2006 to 2016. Demographics, preexisting comorbidities, indications for tracheostomy, and pretracheostomy ventilatory requirements were collected. A multivariate regression model with covariates of age, failure to thrive (FTT), and comorbidities was used to identify factors associated with successful decannulation. Secondary outcomes were ventilation and oxygen requirements at hospital discharge, hospital and intensive care unit length of stay, and complications. Results In total, 105 patients received a tracheostomy at a median age of 8.0 months (interquartile range, 2.0-45.0). The most common indication was anatomic airway obstruction (55 of 105, 52.5%). Forty-four (41.9%) patients had preexisting FTT. In-hospital mortality was 14 of 105 (13.3%). None were directly related to tracheostomy. At discharge, 40 of 91 (44.0%) and 12 of 91 (13.2%) required home mechanical ventilation and supplemental oxygen, respectively. Forty-one (39%) patients underwent successful decannulation at a median 408 days (interquartile range, 170-1153) posttracheostomy. On adjusted analysis, unsuccessful decannulation was more common in patients with FTT and neurologic comorbidities. Postoperative complications were more common in younger patients and those with a longer time to decannulation. Conclusion Neurologic comorbidities and FTT were risk factors for unsuccessful decannulation after pediatric tracheostomy. Nutritional interventions may have a role in improving long-term outcomes following pediatric tracheostomies and should be investigated in future studies.

scholarly journals Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Ghazale Mahjoub ◽  
Parham Habibzadeh ◽  
Hassan Dastsooz ◽  
Malihe Mirzaei ◽  
Arghavan Kavosi ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Novel Mutation ◽  
Case Series ◽  
Nuclear Gene ◽  
Failure To Thrive ◽  
Splice Site Mutation ◽  
Signs And Symptoms ◽  
Feeding Problems ◽  
Site Mutation ◽  
Mitochondrial Dna Depletion

Abstract Background Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondrial DNA (mtDNA) content, which leads to malfunction of the components of the respiratory chain. MDS is classified according to the type of affected tissue; the most common type is hepatocerebral form, which is attributed to mutations in nuclear genes such as DGUOK and MPV17. These two genes encode mitochondrial proteins and play major roles in mtDNA synthesis. Case presentation In this investigation patients in three families affected by hepatocerebral form of MDS who were initially diagnosed with tyrosinemia underwent full clinical evaluation. Furthermore, the causative mutations were identified using next generation sequencing and were subsequently validated using sanger sequencing. The effect of the mutations on the gene expression was also studied using real-time PCR. A pathogenic heterozygous frameshift deletion mutation in DGUOK gene was identified in parents of two affected patients (c.706–707 + 2 del: p.k236 fs) presenting with jaundice, impaired fetal growth, low-birth weight, and failure to thrive who died at the age of 3 and 6 months in family I. Moreover, a novel splice site mutation in MPV17 gene (c.461 + 1G > C) was identified in a patient with jaundice, muscle weakness, and failure to thrive who died due to hepatic failure at the age of 4 months. A 5-month-old infant presenting with jaundice, dark urine, poor sucking, and feeding problems was also identified to have another novel mutation in MPV17 gene leading to stop gain mutation (c.277C > T: p.(Gln93*)). Conclusions These patients had overlapping clinical features with tyrosinemia. MDS should be considered a differential diagnosis in patients presenting with signs and symptoms of tyrosinemia.

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