暂无摘要。

Phosphoglycerate kinase deficiency (PGK1D) is a rare X-linked metabolic disorder with variable phenotype. Mutations of the PGK1 gene result in clinically variable spherocytic hemolytic anemia and variable defects in the central nervous system. Rhabdomyolysis, myopathy, migraine, and retinal involvement have also been reported as clinical consequences. We describe for the first time the anaesthetic management of a patient with the X-linked phosphoglycerate kinase deficiency scheduled for an open gastrostomy procedure to facilitate enteral nutrition due to chronic oral aversion. Given the various organs systems involved, we suggest a number of preoperative investigations and describe our intraoperative management. Given the paucity of literature regarding children with this condition, we believe this case report will be a worthwhile addition to the anaesthetic literature to help guide other anaesthetists managing patients with this condition.

Phosphoglycerate kinase-1 deficiency is caused by X-linked recessive mutations in PGK-1 and associated with haemolytic anaemia, rhabdomyolysis, myopathy and nervous system involvement. Some cases have been rarely associated with juvenile Parkinsonism however the causal relationship between PGK1 deficiency and nigrostriatal dysfunction causing Parkinsonism has not been determined.
To investigate the nigrostriatal system using 99mTc-TRODAT-1 SPECT binding and report the phenotype of three affected males with early onset levodopa responsive Parkinsonism harbouring the c.491 A > T/p.D164V pathogenic variant.
All patients initially presented with infantile-onset encephalopathic and stroke-like episodes, haemolytic anaemia and epilepsy. Two patients had an early-onset and one juvenile-onset levodopa responsive Parkinsonism with motor fluctuations. 99mTc-TRODAT-1 SPECT showed severe bilateral reduced putaminal uptake in the three patients. None of the patients had structural lesions that could explain either pre- or postsynaptic dopaminergic dysfunction.
These cases provide strong evidence of a causal relationship between PGK1 deficiency and nigrostriatal pathology causing Parkinsonism. These findings have potential implications for our understanding of the pathophysiology of nigrostriatal degeneration in sporadic PD.

We report the case of an 18-year-old man with a phosphoglycerate kinase (PGK) deficiency who had slowly progressive leukodystrophy during adolescence. The patient had a history of severe neonatal jaundice, hemolytic crisis with rhabdomyolysis triggered by febrile viral infections, dysarthria, and intellectual disability during early childhood. Clumsiness in walking and writing became obvious at ∼10years of age. Evaluations performed by us on the 18-year-old patient confirmed the presence of pyramidal tract signs, increased muscle tone, and generalized dystonia. Brain magnetic resonance (MR) imaging revealed leukodystrophy in the periventricular white matter, posterior limbs of the internal capsule, dorsal pons, and middle cerebellar peduncles. Compared to MR images acquired at 9years of age, MR images acquired at 18years of age showed that the white matter atrophy had progressed. The PGK deficiency was diagnosed by identifying a known missense mutation in PGK1 (c.1060G>C) through comprehensive target capture sequencing and by observing low PGK activity in his red blood cells. The patient underwent a ketogenic diet for 2weeks, which we expected would increase adenosine triphosphate levels through sources other than the PGK-associated glycolytic pathway. The diet was not tolerated owing to the unexpected emergence of hemolysis. Hemolytic anemia, neurological dysfunction, and myopathy are often associated with PGK deficiencies. However, leukodystrophy as a symptom of PGK deficiency has not been reported previously. Our case highlights the progressive nature of the neurological complications related to PGK deficiencies. Therefore, long-term follow-up is recommended, even if neurological impairments are not obvious during childhood.

OBJECTIVE: Phosphoglycerate kinase (PGK) deficiency is an X-linked neurometabolic genetic disorder with variable systemic manifestations. So far, only one patient with retinal anomalies has been reported, but no visual electrophysiology findings were described. We report the first description of visual electrophysiology in a child with PGK deficiency. This provides further information for the site of involvement in the eye.
METHODS: A case history of a nine-year-old boy with PGK deficiency is reported.
RESULTS: This patient was diagnosed with PGK deficiency by screening soon after birth, as his mother was a known carrier of a PGK gene mutation. A bone marrow transplant was performed at the age of 9 months. He had two episodes of encephalopathy following the transplant but no acute episode of haemolysis. From the age of 6 years, his vision has been deteriorating. Visual electrophysiology results identified retinal involvement involving both rod and cone dysfunction. The visual evoked potential was normal.
CONCLUSIONS: Retinal dystrophy may be one of the clinical manifestations of phosphoglycerate kinase deficiency.