Child Neurology: Bartonella henselae Neuroretinitis in 2 Patients.

Neuroretinitis due to Bartonella henselae infection is a rare cause of vision loss in children. Two pediatric cases of acute unilateral vision loss accompanied by edema of the optic nerve on fundoscopic examination are presented. Severe causes of vision loss were excluded. During the course of the disease, macular stellate exudates emerged on control fundoscopic examinations, and diagnosis of neuroretinitis was made. A causative agent was confirmed by serologic examination, as high titers of IgM and IgG antibodies to Bartonella henselae were detected. Both patients significantly recovered after oral antibiotic treatment.

The usefulness of visual evoked potentials in the assessment of the pediatric multiple sclerosis.

BACKGROUND: To evaluate the significance of visual evoked potentials (VEP) in the early diagnosis of optic neuritis (ON) and detecting clinically silent lesions in pediatric multiple sclerosis (PedMS). This study represents one of the largest series of PedMS which evaluated characteristics of VEP in PedMS patients. METHODS: This was a retrospective study on 52 PedMS patients, aged 7-17 years. VEP analysis were done for all patients, after the first attack of disease and were compared to control subjects according to the pattern-reversal VEP findings. RESULTS: The mean age of patients was 15.65 ± 1.89 years with male to female ratio of 16 (30.8%): 36 (69.2%). All of the patients had a relapsing-remitting course of the disease. ON was discovered on the initial attack in 18 (34.6%) patients, while 30 (57.7%) patients had ON in the second attack. Pathological VEP findings were present in 40 (76.9%) patients, of which 22 (42.3%) PedMS patients had clinically silent lesions. Prolonged latency of P100 waves in the PedMS group was statistically significant when compared to control subjects. The amplitude N1P1 showed a correlation with residual visual deficit. CONCLUSION: Our results show that ON is a common initial manifestation of PedMS in the Serbian PedMS population. The prolonged P100 latency is the main indicator of ON. VEP is an objective, fast and accessible diagnostic method for detecting clinical and subclinical lesions. Thus, VEP deserves evaluation to be considered as an additional criterion for PedMS diagnosis.

Analysis of secondary mtDNA mutations in families with Leber's hereditary optic neuropathy: Four novel variants and their association with clinical presentation.

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by subacute optic atrophy which results in severe visual impairment. The penetrance, clinical expression and disease onset are variable, and frequently associated with other extraocular symptoms. The disease phenotype remains to be an intriguing question which is dependent upon primary as well as secondary mtDNA mutations. In this study we analyzed the whole mtDNA sequence in six LHON families from Serbian population. The mtDNA sequencing was performed by Sanger's method and various bioinformatic tools were used for analysis of detected mutations. LHON patients carry all three (m.3460G > A, m.11778G > A and m.14484 T > C) primary mutations, together with numerous secondary mtDNA mutations. Four novel mutations (m.4516G > A, m.8779C > T, m.13138G > A and m.15986insG) in four different families were discovered. The m.8779C > T and m.13138G > A mutations could have a potential influence on LHON symptoms, but the issue of effect of secondary mtDNA mutations in LHON patients needs to be better clarified in future studies.

Leber hereditary optic neuropathy in the population of Serbia.

BACKGROUND: Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. However, few countries have published their population-based findings related to this multisystemic disease. THE AIM: In order to get a better insight into the epidemiological and clinical picture of this maternally inherited disorder, we performed the first population-based clinical and molecular-genetic study of LHON in the Serbian population. METHODS: Prospective study included patients who were diagnosed with LHON after detailed medical examination and molecular-genetic confirmation. RESULTS: We identified 41 individuals from 12 genealogically unrelated families, carrying one of the three "primary" mitochondrial (mt) DNA point mutations associated with LHON. Fourteen of them were clinically affected, giving a minimum point prevalence of 1.9 per 1,000,000. The minimum point prevalence for mtDNA LHON mutations was 5.2 per 1,000,000. Male to female ratio was 6:1. Only one affected patient harboured mutant mtDNA in heteroplasmic condition. All patients were presented with common clinical findings. CONCLUSION: We observed significantly lower prevalence and higher gender ratio than expected. However, frequencies of primary mutations, incidence of heteroplasmy and clinical findings are in accordance with other studies in Caucasoid populations. Our results might be a consequence of poor recognition and misdiagnosis due to lack of diagnostic possibilities of the entity in different region of our country or less likely be in part due to specific haplotype background of Serbian population which should be further investigated.