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Year : 2021  |  Volume : 10  |  Issue : 1  |  Page : 54-55

Leprechaunism as initial presentation in french canadian type of leigh disease in a neonate: Index of suspicion

1 Department of Paediatrics, Santokba Durlabhji Memorial Hospital, Jaipur, Rajasthan, India
2 Department of Medicine, ESIC Model Hospital, Jaipur, Rajasthan, India

Date of Submission17-Jul-2020
Date of Decision24-Aug-2020
Date of Acceptance24-Sep-2020
Date of Web Publication08-Feb-2021

Correspondence Address:
Dr. Anil Kumar Poonia
Department of Paediatrics, Santokba Durlabhji Memorial Hospital, Jaipur - 302 002, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcn.JCN_113_20

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French Canadian type of Leigh syndrome (LSFC) presents with various neurological manifestations such as mental retardation, dysmorphic facies, hypotonia, ataxia, and have high risk of mortality. Leprechaunism is manifest as persistent hyperglycemia because of extreme insulin resistance. Our case is unique as the association of leprechaunism and LSFC is not documented in any literature. We hereby report a case of leprechaunism as initial presentation in LSFC.

Keywords: French Canadian type of Leigh syndrome, insulin, leprechaunism

How to cite this article:
Poonia AK, Garhwal S, Chaturvedi A. Leprechaunism as initial presentation in french canadian type of leigh disease in a neonate: Index of suspicion. J Clin Neonatol 2021;10:54-5

How to cite this URL:
Poonia AK, Garhwal S, Chaturvedi A. Leprechaunism as initial presentation in french canadian type of leigh disease in a neonate: Index of suspicion. J Clin Neonatol [serial online] 2021 [cited 2021 Aug 2];10:54-5. Available from: https://www.jcnonweb.com/text.asp?2021/10/1/54/308838

  Introduction Top

French Canadian type of Leigh syndrome (LSFC) is a variant of Leigh syndrome with autosomal recessive inheritance, which present as delayed milestones, mental retardation, mild facial dysmorphism, hypotonia, and ataxia, and these infants are at high risk of acute metabolic and neurological decompensation at early age with high risk of mortality. LSFC is characterized by necrotic and cystic lesions, particularly involving the brainstem and basal ganglia.[1]

Leprechaunism is a severe form of insulin resistance characterized by persistent hyperglycemia with additional dysmorphic features.[2]

The association of extreme insulin resistance and LSFC is not documented in the literature. We hereby report a case of leprechaunism as initial presentation in LSFC.

  Case Report Top

Firstborn of dichorionic diamniotic pregnancy by nonconsanguineous marriage, a 30-week gestation male baby with birth weight 1040 g was delivered to primi mother by cesarean section for fetal distress, with normal Apgar score. The second twin was stillborn with multiple congenital anomalies of the skull and limbs. Antenatal sonography showed intrauterine growth restriction (IUGR), severe oligohydramnios with absent diastolic flow in uterine arteries, and the second twin as a macerated fetus.

The baby was admitted to the neonatal intensive care unit and needed mechanical ventilation for severe respiratory distress. The baby had dysmorphic facies with sparing of lateral eyebrows, a bulbous nose with a prominent wide nasal bridge and broad nasal base, thin upper lip, and small chin [Figure 1]: Case image). Ultrasonography (USG) cranium showed bilateral periventricular cystic lesions and linear echogenicities in bilateral basal ganglia, while USG abdomen was normal. TORCH workup was normal. After initial normal random blood sugar level, the baby started to develop hyperglycemia for which insulin infusion was started at 0.05 IU/kg/h, but hyperglycemia was not resolved. Urine ketones were negative. Serum insulin level and C-peptide level were sent and were >300 mcIU/ml and 26.4 ng/ml, respectively. The baby also had severe hyponatremia (sodium: 92 mEq/L), for which 3% saline was given. The baby's blood sugar was remained high for >1000 mg/dl, even insulin infusion was increased to 5 IU/kg/h. Liver and renal function tests were normal. Blood culture was negative. Complete blood count showed thrombocytopenia (platelet: 60,000/cumm) with rest of the parameters in normal range. The baby developed coagulopathy and shock with severe metabolic acidosis, for which supportive treatment was given, but the baby expired on the 4th day of life. Leprechaunism was suspected on the basis of the phenotype and typical clinical course of the baby characterized by insulin-resistant hyperglycemia. In suspicion of genetic disorder, exome sequencing was sent, and a heterozygous form of missense variation in LRPPRC gene, suggestive of LSFC, was detected.
Figure 1: Case image

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  Discussion Top

French Canadian form of Leigh syndrome, which is also known as Saguenay-Lac-St. Jean type congenital lactic acidosis, is a mitochondrial disease characterized by dysmorphic facies, delayed milestones, hypotonia, and metabolic acidosis.[3] LSFC was first described in Quebec, Canada, with a prevalence of 1:2000,[2] while the prevalence in rest of world is 1:40,000. LSFC is caused by homozygous or compound heterozygous mutation in the LRPPRC gene on chromosome 2p21.[4]

In first reported case series, affected children had a phenotype similar to Leigh syndrome, but with varied cytochrome c oxidase enzyme activity in different tissue, like enzyme activity was nearly normal in kidney and heart, 50% of normal activity in fibroblasts and skeletal muscle, and nearly absent activity of cytochrome coxidase enzyme in the brain and liver.[5]

Leprechaunism is a condition with extreme insulin resistance resulting from homozygous or compound heterozygous mutation in INSR gene with autosomal recessive inheritance, which has a primary role in formation of insulin receptors. The affected person has either decreased number of insulin receptors or significantly decreased insulin sensitivity. The affected patient can be diagnosed clinically based on phenotype, elevated insulin level, and hyperglycemia.[6],[7],[8] Affected infants have typical dysmorphic facies (hypertelorism, low-set ears, and large mouth and thick lips), IUGR, muscle hypotrophy, nail dysplasia, and hirsutism.[9]

Extreme insulin resistance in LSFC as initial clinical presentation is not found in the literature, and probably, this is the first case report of this rare association. On the contrary, usually in Leigh syndrome, initially, hypoglycemia is more common finding while hyperglycemia is seen only in metabolic crisis in later life,[10] which is insulin responsive. In our case, we found hyperglycemia with very high insulin level, and no response to high insulin infusion therapy, suggestive of leprechaunism. A genetic study found a mutation in LRPPRC gene, seen in LSFC. The baby could not survive even after best treatment efforts.

  Conclusion Top

We report the first case of association of leprechaunism with LSFC, which has a very high mortality rate. LSFC can be diagnosed on clinical features, while leprechaunism can be suspected on the basis of severe refractory hyperglycemia with high insulin level.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Van Erven PM, Cillessen JP, Eekhoff EM, Gabreels FJ, Doesburg WH, Lemmens WA, et al. Leigh syndrome, a mitochondrial encephalo(myo)pathy: A review of the literature. Clin Neurol Neurosurg 1987;89:217-30.  Back to cited text no. 1
Available from: https://rarediseases.info.nih.gov/diseases/6885/ leprechaunism. [Last retrieved on 2019 Nov 19].  Back to cited text no. 2
Available from: https://rarediseases.info.nih.gov/diseases/8370/ leigh syndrome french canadian type. [Last retrieved on 2019 Nov 19].  Back to cited text no. 3
Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Leigh Syndrome, French Canadian Type; LSFC. Entry No: 220111. Available at: http://omim.org/entry/220111. [Last retrieved on 2019 Nov 19].  Back to cited text no. 4
Merante F, Petrova-Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, et al. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet 1993;53:481-7.  Back to cited text no. 5
Taylor SI, Arioglu E. Genetically defined forms of diabetes in children. J Clin Endocrinol Metab 1999;84:4390-6.  Back to cited text no. 6
Unal S, Aycan Z, Halsall DJ, Kibar AE, Eker S, Ozaydin E. Donohue syndrome in a neonate with homozygous deletion of exon 3 of the insulin receptor gene. J Pediatr Endocrinol Metab 2009;22:669-74.  Back to cited text no. 7
Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Daniel GN. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet 2002;11:1465-75.  Back to cited text no. 8
“Leprechaunism”. National Organization for Rare Disorders. Available at: https://rarediseases.org/rare-diseases/leprechaunism/. [Last retrieved on 2019 Nov 19].  Back to cited text no. 9
Olahova M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, et al. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 2015;138:3503-19.  Back to cited text no. 10


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