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Background: Pediatric acute liver failure (PALF) with undetermined etiology is associated with higher liver transplantation and lower spontaneous recovery (transplant‐free) rates. The diagnostic odyssey in PALF cases hinders appropriate management and follow‐up after liver transplantation. Advances in whole exome sequencing analysis have already been successful at identifying new genetic causes of PALF. Case Presentation: We report a 17‐year‐old girl who underwent liver transplantation at the age of 7 months due to acute liver failure and presented later with abnormal neurological manifestations, that is, gait disturbances, dysarthria, and mental retardation that led us to the diagnosis of SCYL1 deficiency. Conclusion: PALF cases should be screened for possible underlying genetic disorders. Genetic studies and reanalysis of whole‐genome sequencing data may help identify new cases and clarify the genotype–phenotype correlation. SCYL1 deficiency should be suspected in PALF patients who develop neurological involvement after LT. Early diagnosis is vital for proper management of ALF crises in SCYL1 deficiency patients. Despite the reported favorable outcomes of ALF crises in SCYL1 deficiency, liver transplantation decision should be discussed on a case‐by‐case basis. [ABSTRACT FROM AUTHOR]

Neurofibromatosis (NF), or von Recklinghausen's disease is comprised of a heterogeneous group of disorders, primarily affecting the skin, soft tissue, bone and central nervous system. Segmental neurofibromatosis (SN) is a rare form of NF, characterized by “café-au-lait” macules, freckles, and/or neurofibromas limited to a body segment. There are approximately 150 cases reported in the English published work. Bilateral segmental neurofibromatosis is a rare subtype of SN, manifesting with bilateral involvement of the body segments. Herein, we report two patients with SN; one associated with pectus excavatum, and the other case diagnosed as bilateral segmental neurofibromatosis. Asymmetry of the skull and thorax, kyphoscoliosis and segmental bone hypertrophy of the leg are skeletal abnormalities previously reported with SN. To the best of our knowledge, this is the first case of SN in association with pectus excavatum. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented about exanthemata.

A letter to the editor is presented which discusses the case of a 4-month old infant who has diagnosed with congenital myotonic dystrophy, involving Moebius syndrome (MBS) and double-outlet right ventricle.