Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children

Table 1 Clinical characteristics and laboratory findings on admission

Patients		At the time of disease onset	On admission
	Age (years)	Clinical feature	Age (years)	Clinical features	Laboratory finding (serum)
					Lactic acid (mmol/L) (<2.0 normal)	Creatine kinase (IU/L) (22 ~ 270 normal)	Brain MRI findings
1	9	Twitching,stroke like episode	11	Deafness, twitching, glossolalia, mobility limitation	6.7	118	Patchy T1 and T2 abnormal signals in right temporal, occipital and parietal lobes and left parietal lobes.
2	1	Mobility limitation	3	Mobility and speaking limitation, amyotrophy, monophasia	4.58	276	Spotted T1 and T2 abnormal signals in left corona radiata.
3	12	Vomiting,headache, diarrhea	13	Vomiting, lethargy, hypophrenia, speaking and mobility limitation	4.5	602	Multiple patchy T1 and T2 abnormal signals in bilateral cerebellar hemisphere, both occipital lobes and right parietal lobe.
4	9	Vomiting, headache, lethargy	9	Vomiting, headache, lethargy, positive reflex	2.8	766	Large patchy T1 and T2 abnormal signals in left temporo-occipito-parietal lobes.
5	11	Pitting edema, tachycardia, blurred vision, seizures	11	Pitting edema, tachycardia, blurred vision, seizures	3.0	277	Large patchy T1 and T2 abnormal signals in bilateral temporo-occipito-parietal lobes.
6	1	Progressive motor retardation, tremor, ptosis	1	Progressive motor retardation, tremor, ptosis	3.9	138	Abnormal signals in bilateral cerebral peduncle and brainstem tegmental area.

Note: The mean level of lactic acid was 4.25 ± 1.41 mmol/L, the mean level of creatine kinase was 362.83 ± 262.73 IU/L. These brain MRI findings represent those at admission, subsequent brain MRI during follow up showed different degree of changes in different sites.

ISSN: 1824-7288