Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency

Abstract Background: Carbonic anhydrase 12 (CA12) deficiency, a newly recognized rare disorder, has been described among Israeli Bedouin kindred as an autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration, visible salt precipitation after sweating, poor feeding and slow weight gain in infancy. Case presentation: We present two adolescents diagnosed with CA12 deficiency who developed severe rhabdomyolysis as a result of physical activity in a hot climate. Conclusions: This presentation highlights a previously unreported but significant clinical complication of this disorder and emphasizes the persistent risk of excessive salt loss via sweat and a need for certain precautions, such as increased salt intake and avoidance of prolonged and/or strenuous exercise.

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Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report

BMC Neurology ◽

10.1186/s12883-021-02050-w ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Ke Tong ◽

Geng-Sheng Yu

Keyword(s):

Sanger Sequencing ◽

Autosomal Recessive ◽

Missense Variant ◽

Serum Creatine Kinase ◽

Accurate Diagnosis ◽

Strenuous Exercise ◽

Compound Heterozygous ◽

Case Presentation ◽

Heterozygous Variant ◽

Recurrent Rhabdomyolysis

Abstract Background LPIN1-related acute recurrent rhabdomyolysis (RM), first reported in 2008, is an autosomal recessive inherited metabolic disease. In recent years, LPIN1 gene variants have been identified as one of the main causes of severe RM in children in Western countries. The disease is extremely rare in China, and we report a case of acute recurrent RM caused by a novel compound heterozygous LPIN1 variant. Case presentation A 15-year-old Chinese boy presented with myalgia after strenuous exercise, accompanied by transient increases in serum creatine kinase and myoglobin and persistent hyperuricaemia and hyperbilirubinaemia. Genetic analysis using high-throughput genomic sequencing and Sanger sequencing revealed that there was a compound heterozygous variant in the LPIN1 gene of the proband: the paternal c.2047A > G(p.I683V) was an unreported missense variant, and the maternal c.2107_2108 insAGG(p.Q703delin sQE) was an unreported in-frame variant. Conclusions In children with RM, LPIN1 variants should always be considered in the differential diagnosis. The clinical features of our case are atypical, which highlights the importance of an accurate diagnosis by genetic testing. If detected early, the condition may be controlled, and the prognosis may be improved.

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Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0117 ◽

2020 ◽

Vol 33 (10) ◽

pp. 1349-1352

Author(s):

Asburce Olgac ◽

Cigdem Seher Kasapkara ◽

Mustafa Kilic ◽

Ebru Yılmaz Keskin ◽

Gonca Sandal ◽

...

Keyword(s):

Carbonic Anhydrase ◽

Inborn Error ◽

Autosomal Recessive ◽

Normal Development ◽

Metabolic Decompensation ◽

Case Presentation ◽

Hyperammonemic Encephalopathy ◽

Whole Exome ◽

Elevated Lactate ◽

Biochemical Features

AbstractObjectivesCarbonic anhydrase VA (CAVA) deficiency is a rare autosomal recessive inborn error of metabolism that leads to acute metabolic crises, especially in the neonatal or infantile period. It is caused by a deficiency of the enzyme CAVA, which is encoded by the CA5A gene.Case presentationFifteen patients with homozygous pathogenic CA5A mutations involving 10 different lesions have been reported in the literature up to date. Main clinical and biochemical features of CAVA deficiency include lethargy, hyperammonemic encephalopathy, metabolic acidosis, elevated lactate and hypoglycemia. In most patients reported so far, a single metabolic decompensation attack has been reported, and they have remained stable thereafter with no further crisis.ConclusionsWe report the 16th case of CAVA deficiency, who was diagnosed by whole-exome sequencing and showed a typical course of the disease with normal development at 18 months.

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Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12

Human Genetics ◽

10.1007/s00439-010-0930-4 ◽

2010 ◽

Vol 129 (4) ◽

pp. 397-405 ◽

Cited By ~ 22

Author(s):

Emad Muhammad ◽

Neta Leventhal ◽

Galit Parvari ◽

Aaron Hanukoglu ◽

Israel Hanukoglu ◽

...

Keyword(s):

Carbonic Anhydrase ◽

Active Site ◽

Autosomal Recessive ◽

Salt Wasting

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Faculty Opinions recommendation of Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718690317.793517820 ◽

2016 ◽

Author(s):

Anthony DeFranco

Keyword(s):

Autosomal Recessive ◽

Cytidine Deaminase ◽

Autosomal Recessive Form ◽

Hyper Igm Syndrome ◽

Activation Induced Cytidine Deaminase ◽

Recessive Form ◽

Hyper Igm

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

Surgical Case Reports ◽

10.1186/s40792-021-01262-z ◽

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.

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

BMC Musculoskeletal Disorders ◽

10.1186/s12891-020-03890-2 ◽

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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