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Brain & Heart L2-hydroxyglutaric aciduria

A

B C

Figure 3. Brain magnetic resonance imaging results of the patient

activities such as cleaning and grooming all by himself due manifestations, such as learning disability and poor
to the disease. attention span detected at 4 years of age, macrocephaly,
cerebellar involvement presenting at 12 years of age, and
3. Discussion the pyramidal signs are the clinical features indicative

L2HGA is a rare, autosomal recessive neurometabolic of an L2HGA diagnosis. The diagnosis of L2HGA—an
disorder, characterized by slow progression. This autosomal recessive disorder—is also supported by the fact
neurometabolic disorder is caused by the variants in that he is a child born from a consanguineous marriage.
the L2HGDH gene encoding the enzyme L2HGDH. The brain MRI scan for the patient revealed T2/FLAIR
The absence of the L2HGDH enzyme leads to the hyperintensities in bilateral symmetrical subcortical white
accumulation of L2HG in the brain cells, thereby causing matter involving the cerebellum and bilateral basal ganglia,
leukoencephalopathy. This case report presents the first a finding consistently characteristic of the classical pattern
1
case of L2HGA reported in Sri Lanka. seen in L2HGA. Despite the classical clinical picture and
In this case, the patient had a static clinical picture MRI findings obtained, however, confirming the diagnosis
without acute decompensating episodes, which is of L2HGA is rather challenging at the outset, given the
the classical pattern observed in L2HGA. A range of rarity of the disease. Thus, differential diagnosis was

Volume 2 Issue 3 (2024) 4 doi: 10.36922/bh.2145