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Hypocalcemic seizures

MedGen UID:
340985
Concept ID:
C1855841
Disease or Syndrome; Finding
Synonyms: Hypocalcemic seizure; Seizures due to hypocalcemia; Seizures, hypocalcemic
 
HPO: HP:0002199

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypocalcemic seizures

Conditions with this feature

Primary hypomagnesemia
MedGen UID:
120640
Concept ID:
C0268448
Disease or Syndrome
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).
Vitamin D-dependent rickets, type 1
MedGen UID:
124344
Concept ID:
C0268689
Disease or Syndrome
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.\n\nThe signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.\n\nHair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.\n\nIn vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.
Vitamin D-dependent rickets type II with alopecia
MedGen UID:
90989
Concept ID:
C0342646
Disease or Syndrome
Vitamin D-dependent rickets type 2A (VDDR2A) is caused by a defect in the vitamin D receptor gene. This defect leads to an increase in the circulating ligand, 1,25-dihydroxyvitamin D3. Most patients have total alopecia in addition to rickets. VDDR2B (600785) is a form of vitamin D-dependent rickets with a phenotype similar to VDDR2A but a normal vitamin D receptor, in which end-organ resistance to vitamin D has been shown to be caused by a nuclear ribonucleoprotein that interferes with the vitamin D receptor-DNA interaction. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).
Hypoparathyroidism-retardation-dysmorphism syndrome
MedGen UID:
340984
Concept ID:
C1855840
Disease or Syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) is an autosomal recessive multisystem disorder characterized by intrauterine and postnatal growth retardation, infantile-onset hypoparathyroidism that can result in severe hypocalcemic seizures, dysmorphic facial features, and developmental delay (summary by Padidela et al., 2009 and Ratbi et al., 2015).
Autosomal recessive osteopetrosis 7
MedGen UID:
436770
Concept ID:
C2676766
Disease or Syndrome
Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nOsteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.
Hypoparathyroidism, familial isolated 1
MedGen UID:
1713884
Concept ID:
C5241444
Disease or Syndrome
Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; 168450) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. Genetic Heterogeneity of Familial Isolated Hypoparathyroidism FIH2 (618883) is caused by mutation in the GCM2 gene (603716). An X-linked form of familial hypoparathyroidism, HYPX (307700), is caused by interstitial deletion/insertion on chromosome Xq27.1, which may have a position effect on expression of SOX3 (313430). Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, 188400) is usually a sporadic condition (Taitz et al., 1966).
Hypoparathyroidism, familial isolated, 2
MedGen UID:
1715177
Concept ID:
C5394383
Disease or Syndrome
Patients with familial isolated hypoparathyroidism-2 (FIH2) usually present with seizures, caused by hypocalcemia, in early life. Serum parathyroid hormone (PTH; 168450) levels are low to undetectable. Hyperphosphatemia is present, and levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D may be within the normal range. Development can be normal if hypocalcemia is treated with calcium and vitamin D supplementation (Ding et al., 2001). Some patients have been found to lack parathyroid glands (Thomee et al., 2005). For a discussion of genetic heterogeneity of familial isolated hypoparathyroidism, see FIH1 (146200).

Professional guidelines

PubMed

Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Joshi K, Bhatia V
Indian J Pediatr 2014 Jan;81(1):84-9. Epub 2013 Nov 6 doi: 10.1007/s12098-013-1241-2. PMID: 24190401
Balasubramanian S, Dhanalakshmi K, Amperayani S
Indian Pediatr 2013 Jul;50(7):669-75. doi: 10.1007/s13312-013-0200-3. PMID: 23942432

Recent clinical studies

Etiology

Huang YC, Chao YC, Lee IC
Front Endocrinol (Lausanne) 2022;13:998675. Epub 2022 Nov 10 doi: 10.3389/fendo.2022.998675. PMID: 36440223Free PMC Article
Sahni SS, Kakkar S, Kumar R, Goraya JS
Neurol India 2021 Nov-Dec;69(6):1650-1654. doi: 10.4103/0028-3886.333492. PMID: 34979664
Drury R, Rehm A, Johal S, Nadler R
Medicine (Baltimore) 2015 May;94(18):e817. doi: 10.1097/MD.0000000000000817. PMID: 25950689Free PMC Article
Prentice A
J Steroid Biochem Mol Biol 2013 Jul;136:201-6. Epub 2012 Dec 7 doi: 10.1016/j.jsbmb.2012.11.018. PMID: 23220549
Vardy PA, Lebenthal E, Shwachman H
Pediatrics 1975 Jun;55(6):842-51. PMID: 1134884

Diagnosis

Paldino G, Faienza MF, Cappa M, Pietrobattista A, Capalbo D, Valenzise M, Lampasona V, Cudini A, Carbone E, Pagliarosi O, Maggiore G, Salerno M, Betterle C, Fierabracci A
Front Immunol 2023;14:1172369. Epub 2023 Jun 30 doi: 10.3389/fimmu.2023.1172369. PMID: 37457714Free PMC Article
Huang YC, Chao YC, Lee IC
Front Endocrinol (Lausanne) 2022;13:998675. Epub 2022 Nov 10 doi: 10.3389/fendo.2022.998675. PMID: 36440223Free PMC Article
Sahni SS, Kakkar S, Kumar R, Goraya JS
Neurol India 2021 Nov-Dec;69(6):1650-1654. doi: 10.4103/0028-3886.333492. PMID: 34979664
Pugliese MT, Blumberg DL, Hludzinski J, Kay S
J Am Coll Nutr 1998 Dec;17(6):637-41. doi: 10.1080/07315724.1998.10718814. PMID: 9853545
Vardy PA, Lebenthal E, Shwachman H
Pediatrics 1975 Jun;55(6):842-51. PMID: 1134884

Therapy

Chuang LH, Tung YC, Liu SY, Lee CT, Chen HL, Tsai WY
J Formos Med Assoc 2018 Jul;117(7):583-587. Epub 2017 Sep 22 doi: 10.1016/j.jfma.2017.08.013. PMID: 28943082
Drury R, Rehm A, Johal S, Nadler R
Medicine (Baltimore) 2015 May;94(18):e817. doi: 10.1097/MD.0000000000000817. PMID: 25950689Free PMC Article
Joshi K, Bhatia V
Indian J Pediatr 2014 Jan;81(1):84-9. Epub 2013 Nov 6 doi: 10.1007/s12098-013-1241-2. PMID: 24190401
Conzo G, Perna A, Candela G, Palazzo A, Parmeggiani D, Napolitano S, Esposito D, Cavallo F, Docimo G, Santini L
G Chir 2012 Nov-Dec;33(11-12):379-82. PMID: 23140920
Ward LM, Gaboury I, Ladhani M, Zlotkin S
CMAJ 2007 Jul 17;177(2):161-6. Epub 2007 Jun 28 doi: 10.1503/cmaj.061377. PMID: 17600035Free PMC Article

Prognosis

Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Dharmaraj P, Gorvin CM, Soni A, Nelhans ND, Olesen MK, Boon H, Cranston T, Thakker RV, Hannan FM
J Clin Endocrinol Metab 2020 May 1;105(5):1393-400. doi: 10.1210/clinem/dgaa111. PMID: 32150253Free PMC Article
Chawla H, Saha S, Kandasamy D, Sharma R, Sreenivas V, Goswami R
J Clin Endocrinol Metab 2017 Jan 1;102(1):251-258. doi: 10.1210/jc.2016-3292. PMID: 27813708
Basatemur E, Sutcliffe A
J Clin Endocrinol Metab 2015 Jan;100(1):E91-5. doi: 10.1210/jc.2014-2773. PMID: 25279499
Ward LM, Gaboury I, Ladhani M, Zlotkin S
CMAJ 2007 Jul 17;177(2):161-6. Epub 2007 Jun 28 doi: 10.1503/cmaj.061377. PMID: 17600035Free PMC Article

Clinical prediction guides

Paldino G, Faienza MF, Cappa M, Pietrobattista A, Capalbo D, Valenzise M, Lampasona V, Cudini A, Carbone E, Pagliarosi O, Maggiore G, Salerno M, Betterle C, Fierabracci A
Front Immunol 2023;14:1172369. Epub 2023 Jun 30 doi: 10.3389/fimmu.2023.1172369. PMID: 37457714Free PMC Article
Pal R, Bhadada SK, Gupta N, Behera A, Aggarwal N, Aggarwal A, Raviteja KV, Saikia UN, Kaur G, Arvindbhai SM, Walia R
J Endocrinol Invest 2021 Jul;44(7):1425-1435. Epub 2020 Oct 9 doi: 10.1007/s40618-020-01441-z. PMID: 33037580
Scheimberg I, Perry L
Pediatr Dev Pathol 2014 Nov-Dec;17(6):455-64. Epub 2014 Jul 14 doi: 10.2350/14-05-1491-OA.1. PMID: 25019937
Mehrotra P, Marwaha RK, Aneja S, Seth A, Singla BM, Ashraf G, Sharma B, Sastry A, Tandon N
Indian Pediatr 2010 Jul;47(7):581-6. Epub 2009 Oct 14 doi: 10.1007/s13312-010-0131-1. PMID: 20019397
Burle SS, Jain S
Indian Pediatr 2006 Dec;43(12):1033-41. PMID: 17202599

Recent systematic reviews

Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747

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