Case report. Transient nonketotic hyperglycinaemia: ultrasound, CT and MRI

We report a case of transient nonketotic hyperglycinaemia in which radiography correlated closely with clinical and biochemical findings. Only 5 patients have been previously described with this transient form of nonketotic hyperglycinaemia. Among the radiographic findings, thinning of the corpus callosum is the most characteristic. Received: 26 June 1996 Accepted: 29 November 1996     

ABNORMAL PATTERNS OF URINE AND SERUM AMINO ACIDS IN METHYLMALONIC ACIDEMIA

Abnormal patterns of serum and urine amino acids were found in our patient with the recently discovered inborn error Methylmalonic acidemia. The most distinct findings were increased serum and urine concentrations of lysine and glycine. In addition, the serum levels of leucine, isoleucine, valine, threonine and glutamic acid, and the urinary excretion of valine, threonine and ornithine were increased. Both the clinical picture and the amino acid patterns resemble those found in the ketotic form of Hyperglycinemia. Recent studies indicate that hyperglycinemia consists of at least two separate diseases, methylmalonic acidemia and propionic acidemia.     

Focal neuronal loss, reversible subcortical focal T2 hypointensity in seizures with a nonketotic hyperglycemic hyperosmolar state

Introduction Neuroimaging in seizures associated with nonketotic hyperglycemia (NKH) is considered normal. We report magnetic resonance imaging (MRI) abnormalities in four patients with NKH and seizures. Methods We prospectively evaluated clinical and radiological abnormalities in four patients with NKH during the period March 2004 to December 2005. Results All patients presented with seizures, either simple or complex partial seizures or epilepsia partialis continua. Two of them had transient hemianopia. MRI showed subcortical T2 hypointensity in the occipital white matter and in or around the central sulcus (two patients each), T2 hyperintensity of the overlying cortex (two patients), focal overlying cortical enhancement (three patients) and bilateral striatal hyperintensity (one patient). Diffusion-weighted imaging (DWI) performed in three patients showed restricted diffusion. The ictal semiology and electroencephalographic (EEG) findings correlated with the MRI abnormalities. On clinical recovery, the subcortical T2 hypointensity and striatal hyperintensity reversed in all patients. The initial cortical change evolved to FLAIR hyperintensity suggestive of focal cortical gliosis. The radiological differential diagnosis considered initially included encephalitis, malignancy and hemorrhagic infarct rendering a diagnostic dilemma. Conclusion We identified subcortical T2 hypointensity rather than hyperintensity as a characteristic feature of seizures associated with NKH. Only very few similar reports exist in literature. Reversible bilateral striatal T2 hyperintensity in NKH has not been reported to the best of our knowledge.     

Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view

Hemichorea-hemiballism (HCHB) is an usually continuous, nonpatterned, involuntary movement disorder caused by basal ganglia dysfunction, commonly due to a vascular lesion, described in nonketotic hyperglycemic patients. Particular computed tomography and magnetic resonance imaging findings have been described. The pathogenic mechanism of chorea arising during hyperglycemia and the nature of neuroimaging findings are unclear. In this paper we describe two elderly women with onset of HCHB during a hyperglycemic episode. The symptoms persisted in one of them after recovery of normal glycemia. The pathophysiological mechanism of the disease is discussed in the light of clinical and neuroradiological follow-up.     

Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels

An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. Ketotic hyperglycinemia was diagnosed when she was 3 years old. Reinvestigation at 9 1/2 years included a two-day load with L-isoleucine, and propionyl-CoA carboxylase assay in cultured fibroblasts. The following compounds increased following the load: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric acid, 2-ethylhydracrylic acid, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, 2-oxo-3-methylvaleric acid, 2-methyl-3-oxovaleric acid, N-tiglylglycine, methylcitric acid and butanone. Small amounts of alloisoleucine appeared in plasma. Propionyl-CoA carboxylase deficiency was suggested by this metabolite pattern and demonstrated in cultured fibroblasts.With support of the Landesamt für Wissenschaft und Forschung des Landes Nordrhein-WestfalenWith support of Het Praeventiefonds     

A case of hyperglycemic hyperosmolar state associated with Graves' hyperthyroidism: a case report

Hyperglycemic hyperosmolar state (HHS) is an acute complication mostly occurring in elderly type 2 diabetes mellitus (DM). Thyrotoxicosis causes dramatic increase of glycogen degradation and/or gluconeogenesis and enhances breakdown of triglycerides. Thus, in general, it augments glucose intolerance in diabetic patients. A 23-yr-old female patient with Graves' disease and type 2 DM, complying with methimazole and insulin injection, had symptoms of nausea, polyuria and generalized weakness. Her serum glucose and osmolarity were 32.7 mM/L, and 321 mosm/kg, respectively. Thyroid function tests revealed that she had more aggravated hyperthyroid status; 0.01 mU/L TSH and 2.78 pM/L free T3 (reference range, 0.17-4.05, 0.31-0.62, respectively) than when she was discharged two weeks before (0.12 mU/L TSH and 1.41 pM/L free T3). Being diagnosed as HHS and refractory Graves' hyperthyroidism, she was treated successfully with intravenous fluids, insulin and high doses of methimazole (90 mg daily). Here, we described the case of a woman with Graves' disease and type 2 DM developing to HHS.     

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

Nonketotic hyperglycinemia (NKH), or glycine encephalopathy, is an autosomal recessive disorder caused by a defect in the glycine cleavage enzyme system. In neonatal-onset NKH, patients manifest lethargy, hypotonia, apnea, and intractable epileptic seizures that are not specific to this disease. We experienced a 6-year-old girl with spastic quadriplegia, intractable epilepsy, and mental retardation, all initially regarded as sequelae of neonatal meningitis. The seizure frequency was transiently increased when valproate was started. Head MRI revealed progressive brain atrophy and white matter loss with high intensity signals on T2-weighted and diffusion-weighted images, which prompted us to conduct further metabolic workups. High glycine levels led us to suspect NKH, and we confirmed this diagnosis by the non-invasive, ¹³C-glycine breath test. DNA sequencing revealed novel Leu885Pro/Trp897Cys mutations in the glycine decarboxylase gene that were transmitted from both parents. Sodium benzoate and dextromethorphan dramatically decreased her hypertonicity. Our case shows that paradoxical increases in seizure frequency following valproate can be a clue for a diagnosis of NKH, and that a correct diagnosis of NKH can greatly alter the quality of life in such patients.     

糖尿病性非酮症偏侧舞蹈症临床分析

目的分析糖尿病性非酮症偏侧舞蹈症的临床特性、血清学检查、影像学检查、发病机制及治疗,以指导临床诊断,提高对该病的认识。方法回顾性分析我院收集的糖尿病性非酮症偏侧舞蹈症7例患者的临床资料。结果 7例患者,男性3例,女性4例,年龄53～87岁,平均72. 1±11. 7岁。6例患者既往确诊为2型糖尿病,病史1月～20年,1例既往无糖尿病病史。发病时随机血糖波动于7～27 mmol/L,5例发病时随机血糖显著升高,2例发病时随机血糖偏高。6例患者糖化血红蛋白均显著升高,1例未查。临床症状表现主要为单侧或双侧肢体或面部不自主运动。7例患者中,3例头颅CT高密度影CT,4例阴性。2例MRI-T1W1高信号,3例未查,2例阴性。所有患者未复发类似症状,例4患者死于肺癌。结论出现不自主的偏身舞蹈动作的患者,既往血糖控制不佳或入院后查出高血糖,无论头颅CT及MRI有无典型影像学表现,控制血糖后不自主运动消失,均应考虑本病。积极控制血糖,可消除或减少舞蹈症状。     

新生儿非酮症性高甘氨酸血症1例

本文报道了一例新生儿非酮症性高甘氨酸血症,并简单介绍了该病的发病机制、临床表现、诊断和鉴别诊断以及治疗。