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Case Reports
. 2017 Feb;6(1):65-68.
doi: 10.5582/irdr.2016.01076.

Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior

Nitesh Tewari  1 , Vijay Prakash Mathur  1 , Divesh Sardana  1 , Kalpana Bansal  1
Affiliations
Case Reports

Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior

Nitesh Tewari et al. Intractable Rare Dis Res. 2017 Feb.

Abstract

Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder of purine metabolism caused by a mutation in Xq26.2-q26.3 (OMIM 308000.0004). The presence of the diagnostic triad, i.e. signs of self-injurious behavior (SIB) and results of pedigree analysis and novel molecular biology & genetic testing, confirms the diagnosis of LNS. With a level of hypoxanthine guanine phosphoribosyl-transferase 1 (HPRT1) enzyme activity < 2%, patients develop neurological, neurocognitive, and neuromotor symptoms along with SIB. Described here is a case of 4-year-old boy who was diagnosed with LNS. The boy displayed SIB, i.e. biting of the lips and fingers, and he had cerebral venous sinus thrombosis caused by LNS.

Keywords: Lesch-Nyhan disease; X-linked disorder; self-injurious behavior.

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Figures

Figure 1.
Figure 1.
Pedigree chart showing survivors as blue boxes/circles. Red boxes represent individuals with LNS who died at age 3 (1), age 7 (2), and age 4 years and 5 months (3); green boxes represent maternal uncles with renal failure who died at age 30 and age 32. LNS, Lesch-Nyhan syndrome.
Figure 2.
Figure 2.
Ryle's tube is in place in a 4-year-old boy with LNS displaying altered sensorium (a), severe atrophy of the lower lip as a result of SIB (b), and bandaged upper limbs (c). LNS, Lesch-Nyhan syndrome; SIB, self-injurious behavior.
Figure 3.
Figure 3.
A soft resin mouthguard was created to prevent SIB. (a) Signs that lower lip wounds were healing after the mouthguard was affixed, (b) A substantial reduction in SIB and healing of lip wounds after extraction of the primary mandibular incisors, and (c) Recurrence of SIB in a different biting pattern leading to ulceration of the lateral borders and ventral surface of the tongue (d). SIB, self-injurious behavior.
Figure 4.
Figure 4.
LNS diagnostic triad. LNS, Lesch-Nyhan syndrome.
See this image and copyright information in PMC

References

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