Fahr's syndrome presenting as seizures during pregnancy – A case report

Maddani S Sagar; Souvik Chaudhuri; Shwethapriya Rao; Sunil Ravindranath

doi:10.4103/joacc.JOACC_2_20

CASE REPORT

Year : 2020 | Volume : 10 | Issue : 2 | Page : 140-142

Fahr's syndrome presenting as seizures during pregnancy – A case report

Maddani S Sagar, Souvik Chaudhuri, Shwethapriya Rao, Sunil Ravindranath
Department of Critical Care Medicine, Kasturba Medical College, Manipal, Karnataka, India

Date of Submission	09-Jan-2020
Date of Acceptance	03-Jul-2020
Date of Web Publication	20-Aug-2020

Correspondence Address:
Dr. Souvik Chaudhuri
Department of Critical Care Medicine, Kasturba Medical College, Manipal, Karnataka
India

Source of Support: None, Conflict of Interest: None

Check

DOI: 10.4103/joacc.JOACC_2_20

Abstract

Fahr's syndrome is a rare cause of seizures during pregnancy. It typically presents in the third decade of life, and it may be associated with gait instability, paroxysmal choreoathetosis, speech impairment, a neuropsychiatric disorder, myoclonus, and even seizures and coma. Neurological imaging revealing the symmetrical bilateral calcification along with pseudohypoparathyroidism helps in the diagnosis. Prompt treatment of the endocrine abnormalities associated with it can halt the disease process and result in neurological improvement. Thus, evaluation of seizures also requires an endocrine workup of the patient, keeping in mind rare causes like the Fahr's syndrome.

Keywords: Endocrine abnormalities, Fahr's syndrome, pregnancy, seizures, symmetrical calcification

How to cite this article:
Sagar MS, Chaudhuri S, Rao S, Ravindranath S. Fahr's syndrome presenting as seizures during pregnancy – A case report. J Obstet Anaesth Crit Care 2020;10:140-2

How to cite this URL:
Sagar MS, Chaudhuri S, Rao S, Ravindranath S. Fahr's syndrome presenting as seizures during pregnancy – A case report. J Obstet Anaesth Crit Care [serial online] 2020 [cited 2020 Oct 31];10:140-2. Available from: https://www.joacc.com/text.asp?2020/10/2/140/292731

Introduction

Fahr's syndrome is a rare progressive degenerative neurological disorder characterized by symmetrical, bilateral, and abnormal basal ganglia and cerebral calcification, with an incidence of less than 1 per million.^[1],[2] It typically affects individuals in the third or fourth decade of their life.^[1] The pathogenesis is unknown, but it may be secondary to the impairment of the blood–brain barrier or a neuronal calcium phosphoric metabolism disorder.^[2],[3] It has been reported in a study that up to 42.6% of patients with Fahr's syndrome had pseudohypoparathyroidism as the cause.^[1],[4] Treatment of the underlying endocrine abnormality helps resolve the clinical manifestations. To the best of our knowledge, this is the first case of Fahr's syndrome with the first presentation as seizures during pregnancy.

Case Report

A 35-year-old woman, seventh gravida with five living children and no known comorbidities was admitted to the emergency department with complaints of abnormal vaginal bleeding at 17 weeks gestation. There was no history of neurological abnormalities or any significant family history. There was no history of prior genetic testing. Clinical examination was otherwise unremarkable, and complete blood picture, serum electrolytes, and renal functions were within the normal range. A 12-lead electrocardiography and two-dimensional echocardiography were normal. She was diagnosed to have a molar pregnancy, with beta-human chorionic gonadotropin (β-HCG) levels of 7,82,242 mIU/mL, and an abdominal hysterectomy was planned. Just before the surgery, she had one episode of generalized tonic–clonic seizure followed by sudden unresponsiveness. She was immediately given a loading dose of 1 gm levetiracetam and intubated. Emergency total abdominal hysterectomy with bilateral salpingo-oophorectomy was done. Balanced anesthesia was administered with preinduction intra-arterial monitoring. The patient had a blood loss of about 750 ml and required transfusion of two units of packed red blood cells along with about 1.8 l of crystalloids. Her hemoglobin level before surgery was 10.4 g/dL. There was hypotension with mean arterial pressure of about 60 mmHg during the intraoperative period, and intravenous fluids and blood products were transfused to treat the hemorrhagic shock. She was shifted to the intensive care unit (ICU) in an intubated state and on a ventilator for further evaluation and monitoring. Her Glasgow Coma Scale (GCS) was low postoperatively (7/15). She had myoclonus, and injection sodium valproate along with intravenous midazolam infusion was administered. After a period of stabilization in ICU and cessation of myoclonus, computerized tomography (CT) brain and CT pulmonary angiogram were done, suspecting embolism of the hydatidiform mole. The CT scan revealed symmetrical calcifications in bilateral caudate, thalamus, lentiform nucleus, and parenchyma of frontal and parietal lobes, suggestive of possible Fahr's syndrome [Figure 1] and [Figure 2].

Figure 1: Computed tomography brain revealing the characteristic symmetrical calcifications

Click here to view

Figure 2: Computed tomography brain showing bilateral calcification also involving the frontal lobes

Click here to view

CT pulmonary angiogram revealed the spread of the hydatidiform mole to bilateral lungs [Figure 3]. A prompt endocrine evaluation was done, which revealed elevated serum phosphorus—10.4 mg/dL—with a low corrected calcium of 7.8 mg/dL. Her parathormone (PTH) level was normal at 30.9 pg/mL. Measures to correct serum calcium and phosphorus levels were taken. With the endocrine report suggesting pseudohypoparathyroidism and pattern of CT calcifications, the diagnosis of Fahr's disease was confirmed. Despite neuroprotective measures, GCS continued to be low (7/15), and after explaining the possibility of a longer ICU stay, relatives requested for discharge against medical advice, on ventilator support.

Figure 3: Computed tomography pulmonary angiogram revealed the spread of the hydatidiform mole to bilateral lungs

Click here to view

Discussion

While treating a patient of seizures in pregnancy, first, a careful analysis of the multiple causes is required. In our patient, the differential diagnosis for seizures was brain metastasis from the hydatidiform mole, possible intracranial hemorrhage or ischemic stroke and cerebral venous sinus thrombosis. The incidence of metastasis to the brain from gestational trophoblastic neoplasia (GTN) is rare with an incidence of about 11% in living GTN patients.^[5] The literature review revealed that only 222 cases of GTN with brain metastasis have been documented.^[5] Metabolic causes like acute hepatitis were ruled out after investigations and eclampsia was not considered as there was no history suggestive of the condition. In the present patient, we initially wanted to rule out the spread of hydatidiform mole to the brain. However, the CT brain scan revealed bilateral symmetrical calcification and ruled out the other differential diagnosis like ischemic and hemorrhagic stroke. With the first presentation of seizures before 20 weeks of gestation, we had Fahr's syndrome as a differential diagnosis. Imaging must be the confirming investigation. The endocrine evaluation was done, which revealed pseudohypoparathyroidism. Investigations revealed high serum phosphorus with low serum calcium levels and a normal parathormone level. The thyroid profile was normal. Pseudohypoparathyroidism is the most common endocrine abnormality in Fahr's syndrome, and prompt treatment was initiated with intravenous calcium and enteral calcitriol after endocrinologist consultation.^[1],[4] Although the patient did not have a history of progressive neurodegenerative disorder characteristic of Fahr's syndrome, it was the most probable diagnosis, although it was not a definitive one. Our limitation was that we did not do a cerebrospinal fluid (CSF) analysis as there were no signs of meningitis and we could not get the genetic workup done for primary familial basal calcification established by Proband.^[1] A high CSF β-HCG level would have also indicated brain metastasis of the hydatidiform mole.

The highest incidence of seizures in pregnancy is in patients having a prior history of epilepsy.^[6] It is due to pregnancy-induced changes in antiepileptic drug pharmacokinetics.^[6] Physiological changes in pregnancy like the increased volume of distribution, enhanced renal elimination, and altered hepatic enzyme activity lead to a decrease in plasma antiepileptic drug concentrations.^[7] Structural and metabolic changes may precipitate new-onset seizures during pregnancy, which include intracerebral hemorrhage, cerebral venous sinus thrombosis, hyperemesis gravidarum, and eclampsia.^[6] Although seizures have been an initial presentation in this syndrome, most cases present with extrapyramidal and cerebellar symptoms.^[1],[8] No specific etiological agent has been identified, although associations like an endocrine abnormality, mitochondrial myopathy, and infections have been proven.^[1] During the evaluation, other causes of symmetrical calcification of basal ganglia like mitochondrial disorders, Addison's disease, and parathyroid dysfunction should be differentiated.^[1],[2],[8] We had sent tests for parathyroid dysfunction and Addison's disease, which included serum cortisol and serum adrenocorticotrophic hormone, but we did not do tests for mitochondrial disorders. Among the endocrine abnormalities associated with Fahr's syndrome, pseudohypoparathyroidism with normal PTH, low calcium, and high phosphorus levels because of the decreased sensitivity of PTH to target tissues form the largest subgroup of endocrine abnormality.^[4] Several treatment modalities have been administered to achieve remission or at least prevent further progression of the disease.

Antiepileptics, calcium, phosphate level correction, vitamin D3, and corticosteroids have been successful in reversing the neurological abnormalities.^[1] Early diagnosis and treatment of hypoparathyroidism have even reversed the mental retardation and halted the calcification process in a 3-year-old.^[9]

Conclusion

As a workup of the causation of seizures in pregnancy of fewer than 20 weeks gestation, an endocrine evaluation, along with neurological workup, is a necessity. A rare case of seizures in a parturient is presented that turned out after radiological examination to be a case of Fahr's syndrome.

The authors of this manuscript declare that this scientific work complies with reporting quality, formatting, and reproducibility guidelines set forth by the Enhancing the QUAlity and Transparency Of health Research Network. The authors also attest that this clinical investigation was not determined to require institutional ethics committee review, and the approval number is not applicable. Informed consent was taken from the patient's relative as permission for publishing it.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1.	Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, et al. Fahr's syndrome: Literature review of current evidence. Orphanet J Rare Dis 2013;8:156.
2.	Asokan AG, D'Souza S, Jeganathan J, Pai S. Fahr's syndrome- An interesting case presentation. J Clin Diagn Res 2013;7:532-3.
3.	Kotan D, Aygul R. Familial Fahr's disease in a Turkish family. South Med J 2009;102:85-6.
4.	Danowski T, Lasser E, Wechsler R. Calcification of basal ganglia in post-thyroidectomy hypoparathyroidism. Metabolism 1960;9:1064-5.
5.	Piura E, Piura B. Brain metastases from gestational trophoblastic neoplasia: Review of pertinent literature. Eur J Gynaecol Oncol 2014;35:359-67.
6.	Beach RL, Kaplan PW. Seizures in pregnancy: Diagnosis and management. Int Rev Neurobiol 2008;83:259-71.
7.	Pennell PB. Antiepileptic drug pharmacokinetics during pregnancy and lactation. Neurology 2003;61(6 Suppl 2):S35-42.
8.	Lee YJ, Park S, Kim YW, Park KM, Kim IH, Park JH, et al. A case of seizure revealing Fahr's syndrome with primary hypoparathyroidism. Am J Case Rep 2018;19:1430-3.
9.	Chow K, Lu D. Primary hypoparathyroidism with basal ganglia calcification: Report of a case. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1989;30:129-33.