Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient

Keith K. Lau, Samuel P. Yang, Maha Haddad, Lavjay Butani, Sudesh P Makker

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Herein, we report on a paediatric patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) who was hospitalized for acute on chronic renal insufficiency, seizures and deterioration of the level of consciousness. She also had hypertension, hypothyroidism and nephrotic range proteinuria. Kidney biopsy revealed many sclerotic glomeruli and focal segmental glomerulosclerosis (FSGS). Glomerulopathy is rare in patients with MELAS, and FSGS has been reported only in a few patients. The histopathological features of the renal biopsy suggested that the aetiology of the FSGS may have been secondary to chronic renal injury rather than from a primary immunologic cause. Moreover, our case is unique in that, the coexistence of MELAS, hypothalamic hypothyroidism and FSGS has not been reported in the past. The purpose of this report is to increase the awareness of health-care professionals, especially in the fields of paediatrics, neurology, endocrinology and nephrology, regarding the manifestations and complications of MELAS.

Original languageEnglish (US)
Pages (from-to)941-946
Number of pages6
JournalInternational Urology and Nephrology
Volume39
Issue number3
DOIs
StatePublished - Sep 2007

Fingerprint

Focal Segmental Glomerulosclerosis
Lactic Acidosis
Hypothyroidism
Stroke
Pediatrics
Kidney
Biopsy
Nephrology
Endocrinology
Neurology
Consciousness
Chronic Renal Insufficiency
Proteinuria
Seizures
Hypertension
Delivery of Health Care
Mitochondrial encephalopathy
Wounds and Injuries

Keywords

  • FSGS
  • Hypothyroidism
  • MELAS
  • Nephrotic syndrome
  • Paediatrics

ASJC Scopus subject areas

  • Nephrology
  • Urology
  • Geriatrics and Gerontology

Cite this

@article{083d76810fec471b83e0a2c07d9efa3d,
title = "Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient",
abstract = "Herein, we report on a paediatric patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) who was hospitalized for acute on chronic renal insufficiency, seizures and deterioration of the level of consciousness. She also had hypertension, hypothyroidism and nephrotic range proteinuria. Kidney biopsy revealed many sclerotic glomeruli and focal segmental glomerulosclerosis (FSGS). Glomerulopathy is rare in patients with MELAS, and FSGS has been reported only in a few patients. The histopathological features of the renal biopsy suggested that the aetiology of the FSGS may have been secondary to chronic renal injury rather than from a primary immunologic cause. Moreover, our case is unique in that, the coexistence of MELAS, hypothalamic hypothyroidism and FSGS has not been reported in the past. The purpose of this report is to increase the awareness of health-care professionals, especially in the fields of paediatrics, neurology, endocrinology and nephrology, regarding the manifestations and complications of MELAS.",
keywords = "FSGS, Hypothyroidism, MELAS, Nephrotic syndrome, Paediatrics",
author = "Lau, {Keith K.} and Yang, {Samuel P.} and Maha Haddad and Lavjay Butani and Makker, {Sudesh P}",
year = "2007",
month = "9",
doi = "10.1007/s11255-006-9172-8",
language = "English (US)",
volume = "39",
pages = "941--946",
journal = "International Urology and Nephrology",
issn = "0301-1623",
publisher = "Springer Netherlands",
number = "3",

}

TY - JOUR

T1 - Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome with hypothyroidism and focal segmental glomerulosclerosis in a paediatric patient

AU - Lau, Keith K.

AU - Yang, Samuel P.

AU - Haddad, Maha

AU - Butani, Lavjay

AU - Makker, Sudesh P

PY - 2007/9

Y1 - 2007/9

N2 - Herein, we report on a paediatric patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) who was hospitalized for acute on chronic renal insufficiency, seizures and deterioration of the level of consciousness. She also had hypertension, hypothyroidism and nephrotic range proteinuria. Kidney biopsy revealed many sclerotic glomeruli and focal segmental glomerulosclerosis (FSGS). Glomerulopathy is rare in patients with MELAS, and FSGS has been reported only in a few patients. The histopathological features of the renal biopsy suggested that the aetiology of the FSGS may have been secondary to chronic renal injury rather than from a primary immunologic cause. Moreover, our case is unique in that, the coexistence of MELAS, hypothalamic hypothyroidism and FSGS has not been reported in the past. The purpose of this report is to increase the awareness of health-care professionals, especially in the fields of paediatrics, neurology, endocrinology and nephrology, regarding the manifestations and complications of MELAS.

AB - Herein, we report on a paediatric patient with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) who was hospitalized for acute on chronic renal insufficiency, seizures and deterioration of the level of consciousness. She also had hypertension, hypothyroidism and nephrotic range proteinuria. Kidney biopsy revealed many sclerotic glomeruli and focal segmental glomerulosclerosis (FSGS). Glomerulopathy is rare in patients with MELAS, and FSGS has been reported only in a few patients. The histopathological features of the renal biopsy suggested that the aetiology of the FSGS may have been secondary to chronic renal injury rather than from a primary immunologic cause. Moreover, our case is unique in that, the coexistence of MELAS, hypothalamic hypothyroidism and FSGS has not been reported in the past. The purpose of this report is to increase the awareness of health-care professionals, especially in the fields of paediatrics, neurology, endocrinology and nephrology, regarding the manifestations and complications of MELAS.

KW - FSGS

KW - Hypothyroidism

KW - MELAS

KW - Nephrotic syndrome

KW - Paediatrics

UR - http://www.scopus.com/inward/record.url?scp=34548458633&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34548458633&partnerID=8YFLogxK

U2 - 10.1007/s11255-006-9172-8

DO - 10.1007/s11255-006-9172-8

M3 - Article

VL - 39

SP - 941

EP - 946

JO - International Urology and Nephrology

JF - International Urology and Nephrology

SN - 0301-1623

IS - 3

ER -