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Bilateral basal ganglia calcification and recurrent generalized seizures as initial presentation of idiopathic hypoparathyroidism in an infant.

Bhat MA, Laway BA, Mustafa F - J Pediatr Neurosci (2015 Apr-Jun)

Bottom Line: Besides, a direct correlation is seen with the duration of hypocalcemia; the critical duration being ≥4 years.To best of our knowledge, this is probably the youngest case of bilateral basal ganglia calcification in idiopathic hypoparathyroidism in literature.This suggests that besides duration of hypocalcemia, certain genetic factors and the intrauterine milieu may have a role in the pathogenesis of basal ganglia calcification.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences, Jammu and Kashmir, India.

ABSTRACT
Pathological calcification of basal ganglia has been encountered in children since long back and is associated with various disease entities both acute and chronic. Idiopathic hypoparathyroidism is an important cause of basal ganglia calcification and can account for up to 73.8% of cases. The pathogenesis of basal ganglia calcification in hypoparathyroidism is not clear, however, a high calcium-phosphorus product and poor calcium control are believed to be directly related to calcification. Besides, a direct correlation is seen with the duration of hypocalcemia; the critical duration being ≥4 years. In the presented patient, basal ganglia calcification was seen at a very young age of 6 months. To best of our knowledge, this is probably the youngest case of bilateral basal ganglia calcification in idiopathic hypoparathyroidism in literature. This suggests that besides duration of hypocalcemia, certain genetic factors and the intrauterine milieu may have a role in the pathogenesis of basal ganglia calcification.

No MeSH data available.


Related in: MedlinePlus

6-month-old baby with no facial dysmorphism
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Figure 1: 6-month-old baby with no facial dysmorphism

Mentions: A 6-month-old female baby, product of nonconsanguineous marriage, second in birth order, born at term by normal vaginal delivery had presented with history of two episodes of generalized tonic-clonic seizures 24 h after diphtheria, pertussis, tetanus vaccination at the age of 4 months. Patient was taken to a physician who put the patient on liquid phenytoin. Electroencephalogram and magnetic resonance imaging (MRI) brain at that time were unrevealing. In the present admission, the patient had a history of recurrent episodes of generalized tonic-clonic movements of both upper and lower limbs. There was no prior history of fever, vomiting or vaccination. On examination, the patient was actively convulsing with a pulse rate of 110 per min, blood pressure 70/50 mmHg. Neck was free and systemic examination was inconclusive. Patient was immediately started on intravenous phenytoin infusion. Biochemical evaluation of patient revealed serum sodium of 134 mEq/l, serum potassium (3.5 mEq/l), pH (7.43), bicarbonate (26 mmol/l), serum glucose (96 mg/dl), serum calcium (3.5 mg/dl), and serum phosphorus of 5.6 mg/dl. Renal function, liver functions, and other biochemical investigations were normal [Table 1]. Due to severe hypocalcemia and resistant seizures, the patient was put on intravenous calcium and midazolam infusion that resulted in control of seizures. On further evaluation, anthropometry revealed height of 66 cm (54th centile), weight of 7.5 kg (58th centile), and head circumference of 42 cm. There was no facial dysmorphism or any other skeletal anomaly [Figure 1]. Intact serum parathyroid hormone (PTH) was <1 pg/ml, 25-OH Vitamin D 36 nmol/l, 8 am serum cortisol 22.31 μg/dl, and thyroid function tests were normal. Computed tomography (CT) of brain showed bilateral basal ganglia calcification [Figures 2 and 3]. Echocardiography and abdominal ultrasonography were normal. Patient was discharged on phenytoin 25 mg twice a day, levetiracetam 200 mg/day, liquid calcitriol 37.5 μg/day, and liquid elemental calcium of 500 mg/day. Patient is presently 14-month-old seizure free, development is normal, and milestones are consistent with age.


Bilateral basal ganglia calcification and recurrent generalized seizures as initial presentation of idiopathic hypoparathyroidism in an infant.

Bhat MA, Laway BA, Mustafa F - J Pediatr Neurosci (2015 Apr-Jun)

6-month-old baby with no facial dysmorphism
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4489070&req=5

Figure 1: 6-month-old baby with no facial dysmorphism
Mentions: A 6-month-old female baby, product of nonconsanguineous marriage, second in birth order, born at term by normal vaginal delivery had presented with history of two episodes of generalized tonic-clonic seizures 24 h after diphtheria, pertussis, tetanus vaccination at the age of 4 months. Patient was taken to a physician who put the patient on liquid phenytoin. Electroencephalogram and magnetic resonance imaging (MRI) brain at that time were unrevealing. In the present admission, the patient had a history of recurrent episodes of generalized tonic-clonic movements of both upper and lower limbs. There was no prior history of fever, vomiting or vaccination. On examination, the patient was actively convulsing with a pulse rate of 110 per min, blood pressure 70/50 mmHg. Neck was free and systemic examination was inconclusive. Patient was immediately started on intravenous phenytoin infusion. Biochemical evaluation of patient revealed serum sodium of 134 mEq/l, serum potassium (3.5 mEq/l), pH (7.43), bicarbonate (26 mmol/l), serum glucose (96 mg/dl), serum calcium (3.5 mg/dl), and serum phosphorus of 5.6 mg/dl. Renal function, liver functions, and other biochemical investigations were normal [Table 1]. Due to severe hypocalcemia and resistant seizures, the patient was put on intravenous calcium and midazolam infusion that resulted in control of seizures. On further evaluation, anthropometry revealed height of 66 cm (54th centile), weight of 7.5 kg (58th centile), and head circumference of 42 cm. There was no facial dysmorphism or any other skeletal anomaly [Figure 1]. Intact serum parathyroid hormone (PTH) was <1 pg/ml, 25-OH Vitamin D 36 nmol/l, 8 am serum cortisol 22.31 μg/dl, and thyroid function tests were normal. Computed tomography (CT) of brain showed bilateral basal ganglia calcification [Figures 2 and 3]. Echocardiography and abdominal ultrasonography were normal. Patient was discharged on phenytoin 25 mg twice a day, levetiracetam 200 mg/day, liquid calcitriol 37.5 μg/day, and liquid elemental calcium of 500 mg/day. Patient is presently 14-month-old seizure free, development is normal, and milestones are consistent with age.

Bottom Line: Besides, a direct correlation is seen with the duration of hypocalcemia; the critical duration being ≥4 years.To best of our knowledge, this is probably the youngest case of bilateral basal ganglia calcification in idiopathic hypoparathyroidism in literature.This suggests that besides duration of hypocalcemia, certain genetic factors and the intrauterine milieu may have a role in the pathogenesis of basal ganglia calcification.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, Sher-I-Kashmir Institute of Medical Sciences, Jammu and Kashmir, India.

ABSTRACT
Pathological calcification of basal ganglia has been encountered in children since long back and is associated with various disease entities both acute and chronic. Idiopathic hypoparathyroidism is an important cause of basal ganglia calcification and can account for up to 73.8% of cases. The pathogenesis of basal ganglia calcification in hypoparathyroidism is not clear, however, a high calcium-phosphorus product and poor calcium control are believed to be directly related to calcification. Besides, a direct correlation is seen with the duration of hypocalcemia; the critical duration being ≥4 years. In the presented patient, basal ganglia calcification was seen at a very young age of 6 months. To best of our knowledge, this is probably the youngest case of bilateral basal ganglia calcification in idiopathic hypoparathyroidism in literature. This suggests that besides duration of hypocalcemia, certain genetic factors and the intrauterine milieu may have a role in the pathogenesis of basal ganglia calcification.

No MeSH data available.


Related in: MedlinePlus