A Case of Pseudohypoparathyroidism - Rarely Encountered in Clinical Practice

Case Report

Austin J Endocrinol Diabetes. 2022; 9(1): 1094.

A Case of Pseudohypoparathyroidism - Rarely Encountered in Clinical Practice

Gomes RR*

Associate Professor, Department of Medicine, Ad-din Women’s Medical College Hospital, Dhaka, Bangladesh

*Corresponding author: Richmond Ronald Gomes, Associate Professor, Department of Medicine, Ad-din Women’s Medical College Hospital, Dhaka, Bangladesh

Received: March 14, 2022; Accepted: April 05, 2022; Published: April 12, 2022


Physiological intracranial calcification occurs in about 0.3-1.5% of cases. It is asymptomatic and detected incidentally by neuroimaging. Pathological basal ganglia calcification is due to various causes, such as: metabolic disorders, infectious and genetic diseases. Hypoparathyroidism and pseudohypoparathyroidism are the one of the causes of pathological basal ganglia calcification. Besides tetany and seizures this condition is presented by parkinsonism and dementia. Infections (toxoplasmosis, rubella, cytomegalovirus, cysticercosis, AIDS) give multiple and asymmetric intracranial calcification. Inherited and neurodegenerative diseases cause symmetrical, bilateral basal ganglia calcification which is not related to metabolic disorders. Fahr’s syndrome is a rare entity characterized by the presence of bilateral intracranial calcifications with predilection for the basal ganglia and dentate nuclei. It is commonly associated with endocrine disorders, particularly parathyroid and Vitamin D disturbances. Herein we report a case of pseudohypoparathyroidism revealed by Fahr’s disease.

Keywords: Basal ganglia; Calcification; Fahr’s syndrome; Pseudohypoparathyroidism (PHP)


Fahr’s syndrome is a rare, degenerative, and neuropsychiatric disorder characterized by seizures, extrapyramidal, and neuropsychiatric symptoms as a result of symmetric and bilateral calcifications of the nucleus pallidus, the putamen, the dentate nucleus of the cerebellum (striato-pallido-dentate calcinosis) and the hemispheric white matter at the base of the skull [1,2]. Fahr’s syndrome was first reported in 1930 by Karl Theodor Fahr [3]. Diagnostic criteria of Fahr’s syndrome are as follows: bilateral calcification of the basal ganglia on neuroimaging, progressive neurologic dysfunction, absence of biochemical abnormalities, and family history consistent with autosomal dominant inheritance [4,5]. The term Fahr’s disease is used when primary familial brain calcification is present, and the term Fahr’s syndrome is used for secondary causes [6]. It is an inherited or sporadic neurological disorder with a prevalence of <1/10000002. This syndrome is mostly associated with a disorder of calcium and phosphate metabolism, especially to hypoparathyroidism and pseudohypoparathyroidism [2,7-9], but can also be attributed to other different etiologies, including infectious, metabolic, and genetic diseases [1]. PHP is a group of heterogeneous disorders with end-organ resistance of various hormones, especially parathyroid hormone (PTH) [10]. The PTH resistance usually results as hypocalcemia and hyperphosphatemia, leading to basal ganglia (BG) calcification [11]. Seizures and epilepsy occur commonly in PHP, while parkinsonism has been seldomly reported [12].

Case Presentation

An 18-year-old unmarried girl with a history of repeated hypocalcaemic seizure disorder, diagnosed at 7 years, refractory to treatment with phenytoin and valproate, presented with two new episodes of generalized tonicclonic seizures and tingling sensation over perioral regions and both upper and lower limbs for last 2 days. She did not have a history of head trauma, fever, headache, stroke, hypertension, diabetes, thyroid disease, or autoimmune disease. She did not have a family history of epilepsy; furthermore, her brothers, sisters and parents were healthy. Her birth history was uneventful with no history of any perinatal asphyxia, pre term labour or low birth weight. The patient denied any thyroid or other neck surgery. Physical examinations revealed that she had short stature (height: 152cm, weight: 62kg, body mass index (BMI): 26.8) but roundshaped face, and brachydactyly were absent. There was no knuckle dimple sign (archibald’s sign). Her vital signs were as follows: blood pressure was 110/70 mmHg; pulse rate was 74 beat per minutes; respiratory rate was 20 breaths per minutes; and body temperature was 36.3°C. Neurological examination revealed clear consciousness, with no cranial nerve abnormalities, no tremor or no bradykinesia. In addition to some cognitive impairment, on examination she had a positive Trousseau sign (flexion of the wrist and metacarpophalangeal joints when blood pressure cuff if inflated above the systolic blood pressure). Chvostek sign was absent. Laboratory studies: CBS was normal in all cell line, s. electrolyte- sodium 139mmol/l, potassium 4.4mmol/l, HCO3- 28mmol/l, s. creatinine 0.47mg/dl (normal 0.2- 1.1 mg/dl), s. calcium 6.7mg/dL (8.5-10.5 mg/dL), s. albumin 47.63 (so corrected calcium 5.7mg/dl) s. phosphorus 7.69mg/dL (2.6-4.5 mg/dL), s. magnesium 0.7mmol/l (normal 0.66-1.2 mmol/l) intact parathyroid hormone 118.6pg/dL (11-67 pg/dL) with TSH 0.607 (normal 0.35-5.5) and 25-hydroxyl vitamin D 28.33ng/dL (30-65 ng/dL). MT was non conclusive, ANA was negative (5.5U/ml). TORCH panel revealed positive IgM and IgG against HSV 1. Urinary calcium revealed hypocalciuria <2. CT of the brain revealed bilateral symmetrical calcification of the caudate nucleus, lenticular nucleus (putamen + globuspallidus), thalamus, paraventricular region (Figure 1) and also over both fronto parietal region (Figure 2). EEG revealed featured suggestive of secondarily generalized epilepsy.

Citation: Gomes RR. A Case of Pseudohypoparathyroidism - Rarely Encountered in Clinical Practice. Austin J Endocrinol Diabetes. 2022; 9(1): 1094.