|Year : 2012 | Volume
| Issue : 1 | Page : 90-93
Congenital hypoparathyroidism presenting as recurrent seizures in an adult
Sourya Acharya1, Samarth Shukla2, Dinesh Singh1, Rohit Deshpande1, SN Mahajan1
1 Department of Medicine, JNMC, DMIMS Univ., Sawangi, Meghe, Wardha-442 004, Maharashtra, India
2 Department of Pathology, JNMC, DMIMS Univ., Sawangi, Meghe, Wardha-442 004, Maharashtra, India
|Date of Web Publication||9-May-2012|
Department of Medicine, JNMC, DMIMS Univ.,Sawangi, Meghe, Wardha 442004, Maharashtra
Source of Support: None, Conflict of Interest: None
| 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.
Keywords: Hypoparathyroidism, seizures, hypocalcemia
|How to cite this article:|
Acharya S, Shukla S, Singh D, Deshpande R, Mahajan S N. Congenital hypoparathyroidism presenting as recurrent seizures in an adult. J Nat Sc Biol Med 2012;3:90-3
|How to cite this URL:|
Acharya S, Shukla S, Singh D, Deshpande R, Mahajan S N. Congenital hypoparathyroidism presenting as recurrent seizures in an adult. J Nat Sc Biol Med [serial online] 2012 [cited 2021 Jul 29];3:90-3. Available from: http://www.jnsbm.org/text.asp?2012/3/1/90/95981
| Introduction|| |
Neurologic manifestation of hypoparathyroidism can range from signs of latent tetany to frank seizures. Seizures in hypoparathyroidism can be due to hypocalcemia or rarely because of intracranial calcifications. This interesting case highlights the importance of hypoparathyroidism as an etiology of recurrent seizures.
| Case Report|| |
A 17-year old female presented to us with a history of generalized tonic clonic seizures of 20 min duration. Leading questions revealed that the patient had similar episodes of seizures with a frequency of four to five times a month since she was 8 years of age. There was no history of head trauma in childhood. Detailed treatment history was not available. After seizures were controlled with anticonvulsants, the general physical examination revealed normal vitals, mild pallor, peculiar facies in the form of long face, prominent forehead, broad and depressed bridge of nose, small philtrum, hypertelorism, and bilateral lenticular cataracts [Figure 1]. Carpopedal spasm was present and other signs of latent tetany such as Chovstek's sign and Trousseau's sign were present. CVS and RS examinations were normal. CNS examination revealed moderate mental retardation in higher function testing.
Investigations revealed a normal hemogram. RBS was normal. TLC and DLC were within the normal range. Serum Na + , K + were normal; serum calcium-total 5.2 mg% (normal 9-11 mg%), serum ionic calcium-1 mg/dl (normal 4.5-5.5 mg/dl). KFT and LFT were normal; serum parathyroid hormone level-2.76 pg/ml (normal 8-51 pg/ml), ECG-QTc-0.48 s. A 2 D ECHO study was normal. CT brain revealed extensive intraparenchymal calcifications [Figure 2] and [Figure 3].
|Figure 2: CT scan of brain showing symmetric calcification in bilateral caudate nucleus, lentiform nucleus, and gangliocapsular region.|
Click here to view
|Figure 3: CT scan of brain showing symmetric calcification in the dentate nuclei of posterior fossa|
Click here to view
A diagnosis of congenital/hereditary hypoparathyroidism was made. The patient was treated with anticonvulsants, oral calcium 1 g/day and vitamin D 1 mg/day. During the hospital stay of 10 days, she had two attacks of seizures with documented hypocalcemia. After 2 months of follow-up, frequency of seizures were slightly decreased (three attacks) and evidence of latent tetany were absent.
| Discussion|| |
Intracranial calcification is rarely physiological.  Physiological intracranial calcification occurs in about 0.3-1.5% of cases. It is asymptomatic and detected incidentally by neuroimaging. Among the pathological causes [Table 1], one of the important endocrine causes is hypoparathyroidism.
Hypoparathyroidism can be congenital/ hereditary, iatrogenic (e.g., drugs, removal of the parathyroid glands during thyroid or parathyroid surgery, radiation), infiltrative (e.g., metastatic carcinoma, Wilson's disease, sarcoidosis), suppression of parathyroid function such as in hypomagnesemia, infective (HIV/AIDS), or idiopathic which is a diagnosis of exclusion.  Prevalence of hypoparathyroidism is equal in men and women and occurs in all age groups. Basal ganglia calcification is a known association of hypoparathyroidism, the most common site being globus pallidus.  Extensive intracranial calcification as in this case is a rare phenomenon.
Basal ganglia calcification can manifest as seizures, mental deterioration, cerebellar ataxia, Parkinsonism More Details, chorea, and rarely it can be asymptomatic.  The emergence of CT has led to the finding that sporadic calcification is the most common form, present in up to 1.5% of all brain scans. 
Decreased PTH levels, hypocalcemia, and hyperphosphatemia in our case suggest primary hypoparathyroidism. As discussed, abnormal facies, mental retardation, bilateral lenticular cataracts, extensive intracranial calcifications, and most importantly manifestation of the disease from early childhood suggests congenital/hereditary etiology. Long-standing hypocalcemia associated with hyperphosphatemia (observed with PTH deficiency or resistance) leads to calcification of the basal ganglia and mineral ion deposits in the lens leads to cataract formation.
The differential possibilities of congenital/hereditary hypoparathyroidism with their predominant features are described [Table 2].
|Table 2: Description of congenital/inherited causes of hypoparathyroidism|
Click here to view
The typical facies in our case was of DiGeorge's syndrome. DiGeorge's syndrome occurs sporadically and is associated with an embryologic defect in the formation of the third, fourth, and fifth branchial pouches, resulting in the absence of parathyroid glands. DiGeorge's syndrome may, in fact, be a neurocrestopathy, because ablation of the premigratory cephalic neural crest in chick embryos produces the same phenotype.  The contribution of homeobox genes to parathyroid development and their potential relationship to DiGeorge's syndrome also has been demonstrated by the absence of thymic and parathyroid tissue, accompanied by cardiac and craniofacial abnormalities, in mice lacking the homeobox gene hoxa3.
Absence of cardiac defects and T-cell dysfunction can occur in incomplete penetrance of DiGeorge's syndrome. Florescent in situ hybridization (FISH) to detect the abnormal chromosome could not be done in our case because of financial constraints.
| References|| |
|1.||Harrington MG,Macpherson P, McIntosh WB, AllamBF, Bone I. The significance of the incidental finding of basal ganglia calcification on computed tomography.J Neurol Neurosurg Psychiatry 1981;44:1168- 70. |
|2.||Girija AS. Idiopathic hypoparathyroidism with extensive intracranial calcification associated with kinesogenicchoreoathetosis. J Assoc Physicians India 2000;48:938-9. |
|3.||Vakaet A, Rubens R, de Reuck J, vanderEecken H. Intracranial bilateral symmetrical calcification on CT-scanning. ClinNeurolNeurosurg 1985;87:103-11. |
|4.||Koller WC, Cochran JW, Klawans HL. Calcification of the basal ganglia: Computerized tomography and clinical correlation. Neurology 1979;29:328-33. |
|5.||Riley DE, Lang AE Bradley WG, Daroff RB, Fenichel GM, Marsden CD. Neurology in clinical practice. Boston: Butterworth-Heinemann; 2000. p. 1927-8. |
|6.||Ding C, Buckingham B, Levine MA. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.J Clin Invest2001;108:1215-20. |
|7.||Bowl MR, Nesbit MA, Harding B, Levy E, Jefferson A, Volpi E, et al. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.J Clin Invest2005;115:2822-31. |
|8.||Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.Nat Genet2002;32:448-52. |
|9.||Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, et al. GATA3 haplo-insufficiency causes human HDR syndrome.Nature2000;406:419-22. |
|10.||Kelly TE, Blanton S, Sanjad SA, Sakati NA. Confirmation of the assignment of the Sanjad-Sakati Syndrome (OMIM 241410) locus to chromosome 1q42-43. J Med Genet 2000;37:63-4. |
|11.||Papadimitriou A, Hadjigeorgiou GM, Divari R, Papagalanis N, Comi G, Bresolin N. The influence of coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre syndrome anahypoparathyroidism.Neuromuscul Disord1996;6:49-53. |
|12.||Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, et al. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.ProcNatlAcadSci U S A1995;92:7612-6. |
|13.||Su MA, Anderson MS. Aire: An update. CurrOpinImmunol 2004;16:746-52. |
|14.||Baldellou A, Boné J, Tamparillas M, Rivas A, Pena M, Solsona B. Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features.Genet Couns1991;2:245-7. |
|15.||Bockman DE, Kirby ML. Dependence of thymus development on derivatives of the neural crest.Science1984;223:498-500. |
|16.||Chisaka O, Capecchi MR. Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5.Nature1991;350:473-9. |
[Figure 1], [Figure 2], [Figure 3]
[Table 1], [Table 2]