Browse
Submit Data
Databases
API
Help

Dataset Information

6 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Congenital hypoparathyroidism presenting as recurrent seizures in an adult.

ABSTRACT: Hypocalcemia due to hypoparathyroidism may manifest as serious neurologic symptoms such as seizures, movement disorders, or raised intracranial pressure. Several patients were observed to have these dangerous neurologic complications even without subtle signs of hypocalcemia like tetany, chvostek's sign or carpopedal spasms. We present a case of recurrent hypocalcemic seizures due to congenital hypoparathyroidism.

SUBMITTER: Acharya S

PROVIDER: S-EPMC3361787 | biostudies-other | 2012 Jan

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

Congenital hypoparathyroidism presenting as recurrent seizures in an adult.

Acharya Sourya S Shukla Samarth S Singh Dinesh D Deshpande Rohit R Mahajan S N SN

Journal of natural science, biology, and medicine 20120101 1

Hypocalcemia due to hypoparathyroidism may manifest as serious neurologic symptoms such as seizures, movement disorders, or raised intracranial pressure. Several patients were observed to have these dangerous neurologic complications even without subtle signs of hypocalcemia like tetany, chvostek's sign or carpopedal spasms. We present a case of recurrent hypocalcemic seizures due to congenital hypoparathyroidism. ...[more]

PMID: 22690060

Similar Datasets

Chromosome 22q11.2 deletion syndrome presenting as adult onset hypoparathyroidism: clues to diagnosis from dysmorphic facial features.

Project description:We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.

| S-EPMC3657414 | biostudies-literature

Primary hypoparathyroidism presenting with heart failure and ventricular fibrillation.

Project description:A 24-year-old female presented with sudden heart failure and ventricular fibrillation. A complete work-up suggested the existence of primary hypoparathyroidism in an otherwise previously healthy young woman. Left ventricle enlargement was detected by echocardiography with an ejection fraction of 30%. Electrolyte disorders dominated the laboratory results, with severe hypocalcemia, hypokalemia, hypomagnesemia and other changes, which were corrected with infusion therapy. An improvement of her overall condition prompted a switch from electrolyte infusion therapy to the oral route after the first week of treatment. The patient was discharged under calcium, calcitriol, diuretics and angiotensin-converting-enzyme-inhibitors oral maintenance therapy. Two months after discharge, her ejection fraction remained low (33%), although the end-systolic volume had returned to normal values, and her general status had substantially improved. Within a period of 4 months her cardiac function improved significantly and the follow-up surveillance echocardiography showed an ejection fraction of 53%, with normal left ventricle dimensions.

| S-EPMC4399506 | biostudies-other

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

Project description:ObjectiveTo investigate the GCM2 gene in three siblings with congenital hypoparathyroidism and perform functional analysis.Materials and methodsWe sequenced the GCM2 gene by PCR and analyzed the functional consequence of the mutation by transient transfection studies. Haplotype analysis was performed.ResultsWe identified a nucleotide change, c.408C>A, in exon 3 that is predicted to truncate the Gcm2 protein (p.Tyr136Ter). All three affected siblings were homozygous and both parents were heterozygous for the mutation. Transfection studies revealed the mutant mRNA but not expression of the Gcm2 protein. Haplotype analysis revealed that the two mutant GCM2 alleles shared genotypes on chromosome 6p24.2.ConclusionsWe describe the first GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism. Informative genetic markers could not exclude identity by descent for the mutant alleles. Gcm2 protein was not detected after transfection, suggesting that complete lack of Gcm2 action accounts for severe hypoparathyroidism.

| S-EPMC3694175 | biostudies-literature

Recurrent laryngeal nerve injury and hypoparathyroidism rates in reoperative thyroid surgery.

Project description:Reoperative thyroid surgery is rare and has a high complication rate. This retrospective cohort study was performed to determine the recurrent laryngeal nerve injury and hypoparathyroidism rates after reoperative thyroid surgery in two university hospitals in Benghazi, Libya.All consecutive patients who underwent reoperative thyroid surgery between January 2002 and July 2014 were included retrospectively. The cohort was divided according to whether the reoperation was in the previously operated lobe or both lobes (ipsilateral group), or only in the previously non-operated lobe (contralateral group).Of the 73 patients, 66 were female and seven were male. The median age was 37 (19-80) years. Nine (12.3%), five (6.8%), and one (1.4%) patient developed postoperative transient hypocalcemia, transient recurrent laryngeal nerve palsy, and permanent recurrent laryngeal nerve injury, respectively. None of the patients developed permanent hypocalcemia. The ipsilateral group had a higher rate of permanent recurrent laryngeal nerve injury after reoperation than the contralateral group (3.1% vs. 0%). It also had higher rates of transient recurrent laryngeal nerve injury (12.5% vs. 2.4%) and transient hypocalcemia (28.1% vs. 0%), but the two groups did not differ in terms of permanent hypocalcemia rates (both 0%).Reoperative thyroid surgery is technically challenging with a high incidence of complications. The ipsilateral group had more complications after reoperative thyroid surgery than the contralateral group. Hemi- or total thyroidectomy at the primary surgery is recommended to reduce the frequency of reoperative thyroid surgery.

| S-EPMC5448565 | biostudies-other

Desmosterolosis presenting with multiple congenital anomalies.

Project description:Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. A total of 9 cases of desmosterolosis have been reported to date. We report a 20-month-old male from consanguineous parents with multiple congenital anomalies including corpus callosum hypoplasia, facial dysmorphism, cleft palate, pectus deformity, short and wide neck and distal contractures. On analysis of the regions of homozygosity found by microarray, we identified DHCR24 as a candidate gene. Sterol quantitation showed a desmosterol level of 162 ?g/mL (nl: 0.82 ± 0.48). Genetic testing confirmed the diagnosis with a homozygous likely pathogenic mutation (p.Glu191Lys) in the DHCR24 gene. Our case expands the known diagnostic spectrum for Desmosterolosis. We suggest considering Desmosterolosis in the differential diagnosis of patients who present with concurrent agenesis of the corpus callosum with white matter atrophy and ventriculomegaly, retromicrognathia with or without cleft palate, hand contractures, and delay of growth and development. Children of consanguineous mattings may be at higher risk for rare recessive disorders and testing for cholesterol synthesis defect should be a consideration for affected children. Initial evaluation can be performed using sterol quantitation, followed by genetic testing.

| S-EPMC5963269 | biostudies-literature

A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.

Project description:INTRODUCTION:Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. CASE PRESENTATION:A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c.665delG variant in exon 4 of the TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. CONCLUSION:Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis.

| S-EPMC5394421 | biostudies-literature

De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.

Project description:Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detected via changes in serum calcium level. The activating mutation of the CaSR gene results in familial or sporadic ADHH. Most activating mutations of the CaSR gene are reportedly de novo missense mutations. This is the first case report of a novel activating variant of the CaSR gene in a neonate with congenital hypoparathyroidism with hypomagnesemia and hypercalciuria. We also report the 3-month follow-up management of the patient.

| S-EPMC6057017 | biostudies-literature

Adult-Onset Isolated Hemichorea Revealing Iatrogenic Hypoparathyroidism and Bilateral Basal Ganglia Calcification.

Project description:Isolated hemichorea (HC) in adults has a relatively restricted differential diagnosis including stroke of contralateral basal ganglia nuclei, nonketotic hyperglycemia, and basal ganglia toxoplasmosis in HIV infection. Hypoparathyroidism-related basal ganglia calcification can potentially cause neurological problems, including movement disorders, that are usually bilateral in keeping with bilateral symmetric lesions. We report a patient with video-documented isolated, adult-onset HC due to iatrogenic hypoparathyroidism and bilateral basal ganglia calcification. A 47-year-old woman presented with isolated adult-onset HC of 2 years' duration as the presenting and only neurological feature of hypoparathyroidism and bilateral extensive basal ganglia calcification, 20 years after thyroidectomy-induced hypoparathyroidism. Significant improvement in the unilateral hyperkinesia was noted after correction of hypocalcemia and hypoparathyroidism at 3 months. Isolated HC in adults is a rare presenting feature of hypoparathyroidism with bilateral basal ganglia calcification and is treatable with correction of the underlying metabolic abnormality. In all cases with a movement disorder and brain calcification, hypoparathyroidism should be actively sought as this treatable condition must not be missed.

| S-EPMC6839308 | biostudies-literature

Hereditary angioedema-presenting as recurrent abdominal pain.

Project description:We report a very rare case of HEREDITARY ANGIOEDEMA, presenting as recurrent acute abdomen. A 22 yr old Maharastrian male, law college student, got admitted for about fifteen times in previous three years for severe, acute onset, upper abdominal pain, vomiting, distention and acute exudative inflammatory ascites .The whole episode used to subside spontaneously within 2-3 days with or without conservative general management .He underwent various investigations from far basic type, to advanced and invasive type with each recurrence but without definitive diagnosis. He also underwent unnecessary appendectomy. The authors did a review of his previous records, but didn't find any definite surgical or medical cause for his acute abdomen. Obviously it was something rare. Authors did search for it in various surgical and medical literature and searched extensively on internet for rare causes of abdominal pain which guided them for further appropriate investigations and diagnose him as a case of HEREDITARY ANGIOEDEMA ,as his clinical features and C1-INH,C3-C4 levels were strongly in favour of it . It goes without saying that the internet has become a standard accessory to conventional literature for cases with diagnostic dilemmas and for treatment options as well.

| S-EPMC3236260 | biostudies-other

SCN8A mutation in a child presenting with seizures and developmental delays.

Project description:The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.

| S-EPMC5111007 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data