A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?

Abstract

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.

A Case of Complete Neu-Laxova Syndrome: Report and Literature Review

“…Indeed, parental consanguinity was present in the majority of the cases reported. Karyotyping of affected cases has been reported to be normal on majority cases[6] [7] [8][11].Additionally, the literature [5][6] shows mostly a history of previous spontaneous abortions. And/or similar cases, or new born death, which is our case.…”

Prenatal Diagnosis of Neu–Laxova Syndrome

“…None of them were observed in our case 1. In addition, polyhydramnios is a frequent sonographic sign (31% of cases) [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] that was not present in our case 1.…”

“…As the result of these findings, we wanted to review all the cases published to date, representing the most important clinical and ultrasound features in the following table ( Table 1 ). Of the 88 reported cases of NLS to date from genetics laboratories around the world [ 5 ], 81 have been published in the literature in different articles over the years (but the vast majority of them are cases of postnatal diagnosis, cases of prenatal diagnosis are fewer), which are the ones we have analyzed in this review [ 4 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 ]. In most cases, the findings have been studied postmortem by necropsy.…”

Neonatal Endocrinologic Problems in Collodion Babies

“…Diagnosis of congenital hypothyroidism is based on primary thyroid-stimulating hormone (TSH) measurement with backup thyroxine (T4) determination in infants with high TSH levels, primary T4 measurement with backup TSH assessment in infants with low T4 levels, and simultaneous measurement of T4 and TSH levels (6). Case reports of hypothyroidism accompanying disease have appeared in the literature (1)(2)(3)(4)(5)(6)(7). Ichthyosis with familial thyroxine-binding globulin excess has also been reported in a case report (8).…”

“…In addition to intrauterine growth retardation, most patients experience postnatal growth retardation . Thyroid hormones are related to brain growth as well as physical growth and development, so early diagnosis and treatment of thyroid disorders in the newborn period is important.…”