Symmetric basal ganglia calcification in a 9-year-old child with MELAS

Chung, Sheng-Horng; Chen, Shyr‐Chyr; Chen, Wen‐Jone; Lee, Chien‐Chang

doi:10.1212/01.wnl.0000184112.34211.d1

Cited by 15 publications

(6 citation statements)

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“…Hypoparathyroidism can be caused by congenital disorders (like Di George syndrome, mitochondrial cytopathies), receptor insensitivity (pseudohypoparathyroidism type Ia-c, II), surgery, autoimmune disorders (familial autoimmune polyglandular syndrome type I), or hemochromatosis, or can be idiopathic [2,3] .…”

Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism presenting with late onset seizures - a report of two cases from rural India

Verma¹,

Kumar²

2018

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Hypoparathyroidism leading to hypocalcaemia is an important treatable cause of recurrent seizures. Neurological manifestations due to hypoparathyroidism include: seizures, paresthesia, depression, psychosis, extra pyramidal symptoms, and features of raised intracranial pressure. Seizures may be the presenting symptoms preceding other signs of hypocalcaemia. Primary hypoparathyroidism presenting for the first time as seizures in the elderly is quite rare. Here we report two cases of hypoparathyroidism presenting with seizures in the elderly as the sole manifestation of hypocalcaemia. The goal of this report is to seek attention to such an uncommon reversible treatable cause of seizures and to consider hypoparathyroidism in the work up of these patients.

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Section: Discussionmentioning

confidence: 99%

Hypoparathyroidism presenting with late onset seizures - a report of two cases from rural India

Verma¹,

Kumar²

2018

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“…Calcifications are not unique to the spinal cord and can be deposited in other organs, such as the skin, ligaments, joints, heart and vessels, lung, liver, kidney, and brain (Kramsch and Chan, 1978;Munoz et al, 1988;Wachtel et al, 1992;Hale, 2003;Rajamannan et al, 2003;Bilge et al, 2005;Chung et al, 2005;Eggert and Albright, 2006;Li et al, 2006). In its most extreme form, patients with end-stage renal disease and secondary hyperparathyroidism could develop so called calciphylaxis.…”

Section: Discussionmentioning

confidence: 99%

Spinal arachnoid calcifications

Wijdicks

Williams

2006

Clinical Anatomy

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Arachnoid calcifications have been imaged on axial-CT and MRI. These often clinically asymptomatic deposits have been attributed to trauma, myelography (particularly with the use of oil-based contrast), subarachnoid hemorrhage, and spinal anesthesia. This report describes calcified arachnoid plaques in an 86-year-old male cadaver located in the dorsal thoracic level. A laminectomy from C4 to the lumbo-sacral junction was performed and the dura mater was transected and pinned aside. Three plaques between T2-T3, 3 at T7, 2 at T9 were noted. Plaques were 1.0 mm in thickness and ranged from 0.5 cm to 1.0 cm in diameter. The spinal cord or nerve roots were not displaced. The plaques stained positively with Von Kossa and Alizarin Red S staining, confirming that the deposits included calcium phosphate and calcium. Arachnoid calcifications are an incidental finding in cadavers and typically do not compress the spinal cord or nerve roots. However such plaques may be precursors to spinal arachnoid ossificans, a more serious condition that may cause spinal cord or nerve root compression.

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“…The MSCAE data were based on our own material (n = 36), which has been previously published (Tzoulis et al, 2006(Tzoulis et al, , 2010. Ninety-four MELAS cases were collected from the literature (n = 89) (Goto et al, 1992;DiMauro and Hirano, 1993;Takahashi et al, 1998;Watanabe et al, 1998;Yoneda et al, 1999;Ohshita et al, 2000;Oppenheim et al, 2000;Bataillard et al, 2001;Deschauer et al, 2001;Kim et al, 2001Kim et al, , 2011Iizuka et al, 2002Iizuka et al, , 2007Crimi et al, 2003;Jeppesen et al, 2003;Kolb et al, 2003;Wang et al, 2003Wang et al, , 2010Chung et al, 2005;Betts et al, 2006;Bi et al, 2006;Mizrachi et al, 2006;Tzoulis et al, 2006Tzoulis et al, , 2010Chan et al, 2007;Conforto et al, 2007;Malfatti et al, 2007;Chou et al, 2008;Ito et al, 2008;Stoquart-Elsankari et al, 2008;Hsu et al, 2009;Karkare et al, 2009;Tzoulis and Bindoff, 2009;Herrero-Martin et al, 2010;Tsujikawa et al, 2010;Glatz et al, 2011) and our own unpublished material (n = 5). This was a non-systematic review that included all large case series of patients fulfilling the clinical criteria for MELAS ...…”

Section: Methodsmentioning

confidence: 99%

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

Tzoulis

Bindoff

2012

Brain

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Mitochondrial dysfunction and disease may arise as a result of mutations in either the mitochondrial genome itself or nuclear encoded genes involved in mitochondrial homeostasis and function. Irrespective of which genome is affected, mitochondrial encephalopathies share clinical and biochemical features suggesting common pathophysiological pathways. Two common paradigms of mitochondrial encephalopathy are mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes caused by maternally transmitted mutations of mitochondrial DNA and mitochondrial spinocerebellar ataxia and epilepsy caused by recessively inherited mutations of the nuclear-encoded DNA polymerase gamma, which replicates and repairs the mitochondrial genome. We studied and compared the disease mechanisms involved in these two syndromes. Despite having different genetic origins, their pathophysiological pathways converge on one critical event, damage to the respiratory chain leading to insufficient energy to maintain cellular homeostasis. In the central nervous system, this appears to cause selective neuronal damage leading to the development of lesions that mimic ischaemic damage, but which lack evidence of decreased tissue perfusion. Although these stroke-like lesions may expand or regress dynamically, the critical factor that dictates prognosis is the presence of epilepsy. Epileptic seizures increase the energy requirements of the metabolically already compromised neurons establishing a vicious cycle resulting in worsening energy failure and neuronal death. We believe that it is this cycle of events that determines outcome and which provides us with a mechanistic structure to understand the pathophysiology of acute mitochondrial encephalopathies and plan future treatments.

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Symmetric basal ganglia calcification in a 9-year-old child with MELAS

Cited by 15 publications

References 1 publication

Hypoparathyroidism presenting with late onset seizures - a report of two cases from rural India

Hypoparathyroidism presenting with late onset seizures - a report of two cases from rural India

Spinal arachnoid calcifications

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects

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