Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan

2018 ◽  
Vol 31 (5) ◽  
pp. 581-584
Author(s):  
Salma A. Ajarmeh ◽  
Eyad M. Al Tamimi
Keyword(s):  
Autosomal Recessive ◽  
Macrocytic Anemia ◽  
Failure To Thrive ◽  
Cow Milk ◽  
Folic Acid Deficiency ◽  
Case Presentation ◽  
Acid Deficiency ◽  
Characteristic Features ◽  
Severe Growth ◽  
Rare Autosomal Recessive Disease

Abstract Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155–166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. Case presentation: We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the TBCE mutation. Although malabsorption was initially considered the cause of his symptoms, the results did not confirm that diagnosis. Our patient had cow milk protein allergy and folic acid deficiency, which has not been described in previous SSS cases. It was difficult to treat the patient’s hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia. Conclusions: SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive.

scholarly journals Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: The first four patients in Serbia

2010 ◽  
Vol 138 (5-6) ◽  
pp. 351-355 ◽  
Author(s):  
Amira Peco-Antic ◽  
Martin Konrad ◽  
Gordana Milosevski-Lomic ◽  
Nikola Dimitrijevic
Keyword(s):  
Renal Failure ◽  
Secondary School ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Index Case ◽  
Serum Magnesium ◽  
Magnesium Supplementation ◽  
Moderate Renal Failure ◽  
Severe Growth ◽  
Rare Autosomal Recessive Disease

Introduction Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease characterized by excessive renal magnesium and calcium wasting, bilateral nehrocalcinosis and progressive renal failure. This is the first report of FHHNC of four patients in Serbia. Outline of Cases The first three patients were siblings from the same family. The index case, a 9-yearold girl, presented with severe growth retardation, polyuria and polydipsia, while her brothers, 11 and 7 years old, were disclosed during family member screening. The father had a urolithiasis when aged 18 years, while intermittent microhaematuria and bilateral microlithiasis persisted later on. The fourth patient, a 16-year-old boy with sporadic FHHNC was discovered to have increased proteinuria at routine examination of urine before registration for secondary school. He was well grown up, normotensive, but had moderate renal failure (CKD 3 stage), mild hypomagnesaemia and severe hypercalciuria and nephrocalcinosis. Beside typical clinical and biochemical data, the diagnosis of FHHNC was confirmed by mutation analysis of the CLDN16 gene; in all four affected individuals a homozygous CLDN16 mutation (Leu151Phe) was found. Treatment with magnesium supplementation resulted in the normalization of serum magnesium levels only in one patient (patient 4), but hypercalciuria persisted and renal failure progressed in all patients. Conclusion FHHNC is a rare cause of chronic renal failure. The first four patients with FHHNC in Serbia have been here described. The diagnosis of FHNNC based on the findings of nephrocalcinosis with hypomagnesiaemia and hypercalciuria, was confirmed by homozygous paracellin1-mutation exhibiting a Leu151Phe. .

Donohue syndrome: a new case with a new complication

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Rasha Odeh ◽  
Abeer Alassaf ◽  
Abdelkarim A. Al-Qudah
Keyword(s):  
Autosomal Recessive ◽  
Receptor Gene ◽  
Failure To Thrive ◽  
Postnatal Growth ◽  
Severe Form ◽  
Insulin Receptor Gene ◽  
Donohue Syndrome ◽  
Fasting Hypoglycemia ◽  
Physical Features ◽  
Rare Autosomal Recessive Disease

AbstractDonohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million live births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor gene. DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features. Glucose homeostasis is affected with hyperinsulinemia, fasting hypoglycemia, and postprandial hyperglycemia. We report a Jordanian patient with genetically proven DS who had the classical physical features, progressive hypertrophic cardiomyopathy, cholestasis, and hyperglycemia, followed by hypoglycemia. In addition, the patient developed polyuria and uremia despite normal creatinine levels, hypernatremia, and hypertension. To our knowledge, these metabolic derangements were not previously reported in patients with DS.

Folic Acid Anemia in Coho Salmon

1969 ◽  
Vol 26 (1) ◽  
pp. 111-114 ◽  
Author(s):  
Charlie E. Smith ◽  
John E. Halver
Keyword(s):  
Folic Acid ◽  
Coho Salmon ◽  
Macrocytic Anemia ◽  
Folic Acid Deficiency ◽  
Blood Cell Count ◽  
Deficient Diet ◽  
Blood Smears ◽  
Acid Deficiency ◽  
Red Blood Cell Count ◽  
Peripheral Blood Smears

Juvenile coho salmon (Oncorhynchus kisutch) fed a folic acid-deficient diet and sampled at 6, 9, 12, and 14 weeks developed macrocytic anemia. The anemia, first observed at 6 weeks, was characterized by a significant reduction in red blood cell count as well as macrocytosis and poikilocytosis of erythrocytes. The abnormally shaped erythrocytes observed in peripheral blood smears may be an important aid in the identification of folic acid deficiency in coho salmon. Gross manifestations of the deficiency were extremely pale gills; exophthalmia, often accompanied by ascites fluid; dark coloration; and reduction in growth. Fish recovered after 8 weeks on a diet adequate in folic acid and exhibited a normal blood picture.

scholarly journals Folates: Key Nutrients to Remember

2017 ◽  
Vol 9 (2) ◽  
pp. 75
Author(s):  
Gourchala Freha ◽  
Mihoub Fatma ◽  
Henchiri Cherifa
Keyword(s):  
Folic Acid ◽  
Macrocytic Anemia ◽  
Folic Acid Supplementation ◽  
Intestinal Lumen ◽  
Folic Acid Deficiency ◽  
Hydrogen Atoms ◽  
Rapid Multiplication ◽  
Vitamin B9 ◽  
Acid Deficiency ◽  
Pteroylglutamic Acid

Folic acid or vitamin B9 or pteroylglutamic acid, is a relatively simple molecule with two characteristics; firstly, it must be reduced by 2 or 4 hydrogen atoms to be metabolically active which makes it sensitive to oxidation and must be protected by ascorbic acid, secondly it may include in addition to the constituent residues of the molecule, 1-7 glutamate residue at one of its ends. These polyglutamate forms that make up the largest share of food folate, must be deconjugated by a specific enzyme present in the intestinal lumen before being absorbed in the jejunum. It is in the methylated form after passing through the enterocyte it is transported in the blood, excreted in bile and reabsorbed. It must be demethylated to integrate folic cell cycle and methyl transfer, that allows the synthesis of methionine (only possible in the presence of vitamin B12), purine, serine and especially thymidylic acid, constitutive DNA. As a methyl donor that plays a fundamental role in cerebral and nervous metabolism. Folates are involved in cell division thus; any folic acid deficiency causes a slowdown in rapid multiplication systems which may lead to red blood cell disorders (macrocytic anemia), immunity, and neural tube defects, in addition to physiological disorders (cardiovascular, cancer ...). Folic acid supplementation appears to allow the correction of these disorders.

Hematological Changes in Coho Salmon Fed a Folic Acid Deficient Diet

1968 ◽  
Vol 25 (1) ◽  
pp. 151-156 ◽  
Author(s):  
Charlie E. Smith
Keyword(s):  
Folic Acid ◽  
Peripheral Blood ◽  
Coho Salmon ◽  
Macrocytic Anemia ◽  
Oncorhynchus Kisutch ◽  
Folic Acid Deficiency ◽  
Deficient Diet ◽  
Acid Deficiency ◽  
Hematological Changes

Coho salmon (Oncorhynchus kisutch) fed a diet deficient in folic acid for 24 weeks developed megaloblastic, normochromic macrocytic anemia. The anemia was further characterized by the presence of poikilocytic erythrocytes which were observed in stained preparations of peripheral blood. These abnormally shaped cells appear to be an important aid in the identification of folic acid deficiency. The anemia disappeared when the deficient fish were fed a recovery diet containing folic acid for 8 weeks.

scholarly journals Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China

2021 ◽  
Vol 9 ◽  
Author(s):  
Jianli Zhou ◽  
Yuzhen Zhao ◽  
Xia Qian ◽  
Yongwei Cheng ◽  
Huabo Cai ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Chronic Diarrhea ◽  
Failure To Thrive ◽  
Inherited Disease ◽  
Restricted Diet ◽  
Novel Mutations ◽  
Case Presentation ◽  
Whole Exome ◽  
Novel Variants

Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase (SI) gene. Cases of CSID are not very prevalent in China or worldwide but are gradually being identified and reported.Case Presentation: We report a case involving a 14-month-old male who presented with failure to thrive that had begun after food diversification and was admitted for chronic diarrhea. We used a whole-exome sequencing (WES) approach to identify mutations in this patient's genome. WES revealed two novel heterozygous mutations in the SI gene, c.2626C > T (p.Q876*) and c.2872C > T (p.R958C), which were confirmed by Sanger DNA sequencing. With a strict sucrose- and starch-restricted diet, the patient's diarrhea was resolved, and he began to gain weight.Conclusions: We report a case of novel variants in the SI gene that caused CSID. This report provides valuable information for the clinical field, especially in China.

scholarly journals Robotic-assisted proximal gastrectomy using the double-flap technique for early gastric cancer with situs inversus totalis: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Atsushi Takeno ◽  
Toru Masuzawa ◽  
Shinsuke Katsuyama ◽  
Kohei Murakami ◽  
Kenji Kawai ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Situs Inversus ◽  
Autosomal Recessive ◽  
Intraoperative Complications ◽  
Proximal Gastrectomy ◽  
Situs Inversus Totalis ◽  
Upper Body ◽  
Robot Assisted ◽  
Case Presentation ◽  
First Case

Abstract Background The robotic system has been applied in the treatment of gastric cancer (GC), and the procedure has been found to be safe and feasible. Situs inversus totalis (SIT) is a relatively rare autosomal recessive congenital anomaly. We successfully performed robot-assisted proximal gastrectomy (RAPG) and handsewn double-flap esophagogastrostomy for GC in a patient with SIT. Case presentation A 71-year-old woman was referred to us with an asymptomatic ulcerative lesion in the upper body of the stomach. Computed tomography revealed that she had SIT. She was diagnosed with cT1bN0M0, cStageIA gastric cancer. RAPG with lymph node dissection and handsewn double-flap esophagogastrostomy was performed. Robotic surgery enabled the surgeon to perform the surgery without changing his position and experiencing any confusion resulting from the patient’s reversed anatomy. It took 448 min, and no intraoperative complications occurred. Her postoperative course was uneventful; she was discharged on postoperative day 10. The final pathologic report showed pT1b1N0M0, pStage IA. Conclusions This is the first case describing RAPG with handsewn double-flap esophagogastrostomy for a SIT patient with early GC.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

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