Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
Images in Dermatology
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Media and news
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current Issue
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
Images in Dermatology
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Media and news
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Case Report
2008:74:5;487-489
doi: 10.4103/0378-6323.44307
PMID: 19052411

Neu-Laxova syndrome in an appropriate for gestational age newborn

Dilek Dilli1 , Handan Yasar2 , Ugur Dilmen2 , Gulay Ceylaner3
1 Department of Pediatrics, Ministry of Health Ankara Training and Research Hospital, Ankara, Turkey
2 Department of Neonatology, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey
3 Department of Medical Genetics, Zekai Tahir Burak Maternity Hospital, Ankara, Turkey

Correspondence Address:
Dilek Dilli
Varlik mah. Yüzücü sok. Anadolu Apt. No. 27/6 Zip code: 061 20, Yenimahalle/Ankara
Turkey
How to cite this article:
Dilli D, Yasar H, Dilmen U, Ceylaner G. Neu-Laxova syndrome in an appropriate for gestational age newborn. Indian J Dermatol Venereol Leprol 2008;74:487-489
Copyright: (C)2008 Indian Journal of Dermatology, Venereology, and Leprology

Abstract

Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA) newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.
Keywords: Appropriate for gestational age, Newborn, Neu-laxova syndrome

Introduction

Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive syndrome including multiple congenital abnormalities. This syndrome was first described in three siblings by Neu et al. in 1971. [1] To date, in the medical literature, researchers have reported that NLS was associated with intrauterine growth retardation. Here, we present a case of this rare syndrome diagnosed in an AGA newborn.

Case Report

A 20-year-old primi gravida woman delivered vaginally a male infant weighing 3000 g (25-50 th centile) and measuring 51 cm (25-50 th centile) in length at 38 weeks of pregnancy. The mother had not been followed up by a gynecologist with prenatal ultrasound examination.

Her past medical history was unremarkable except consanguinity (first cousin). At birth, the newborn had a 5-minute APGAR score of < 7 with respiratory distress. His cry was normal, but he was unable to suck effectively. The skin was thickened and covered by edematous, armor-like pale yellowish layer. This layer was cracked, forming deep fissures along the whole body. The neck was short, thick, and edematous. There was severe eclabion with thick and widely separated lips, leaving the mouth open. The chin was underdeveloped. The nasal bridge was flat and the nostrils were patent. The eyes were exophthalmic, and there was severe ectropion. Ears were hypoplastic and deformed. The head circumference was below the 3 rd centile (32 cm) with sloping forehead, completely closed bone sutures, and fontanelles. No scalp hair was present and nails were rudimentary. There was no cleft lip or cleft palate abnormality. There was excessive edema on hands and feet. Limbs were short and contracted. There was no obvious anal opening. External genitalia were hypoplastic, and the testes were not palpable [Figure - 1].

A complete blood count; liver and kidney function tests and serum levels of electrolytes were all normal. Computerized cranial tomography imaging showed lissencephaly and agenesis of the corpus callosum. In addition, chromosome analysis performed on a peripheral blood sample showed a normal karyotype (46, XY).

Skin biopsy findings were compatible with ichthyosis. There was extensive hyperkeratosis without parakeratosis. Stratum corneum was thickened compared to stratum malpighi, granular layer was thin, and the basal layer was unremarkable. There was marked papillomatosis and increased fatty tissue beneath the epidermis.

Immediately after transfer to our neonatal intensive care unit, the baby was nursed in a humidified incubator maintained at 33°C. Oxygen was administered using a hood. As peripheral venous access was difficult, an umbilical venous line was set up. An extra 25% allowance was provided for fluid and calorie requirements from the first day. After taking appropriate cultures, antibiotics were commenced in order to prevent infection. Vaseline containing lactic acid 5% and local antiseptics were applied topically. Ectropion was covered with eye pads soaked in saline. The plate-like scales split and peeled off, revealing glazed and erythematous skin underneath. He had a cardiorespiratory arrest on the fifth day. No microorganisms grew in the cultures.

Discussion

In reported cases, NLS has been described as a complex syndrome characterized by marked intrauterine growth restriction (IUGR), ichthyosis, microcephaly, central nervous system (CNS) anomalies and abnormal facial features. The pathologic abnormalities appear to be a result of neuro-ectodermal dysplasia, as evidenced by lack of brain development, eye abnormality, absence of hair, and hyperkeratosis. In our patient, we observed similar findings, including severe ichthyosis, CNS anomalies, microcephaly, and characteristic facial features. Additionally, he had genital abnormalities, including hypoplastic genitalia and bilateral cryptorchidism. In the medical literature, most of the reported cases were associated with IUGR, which was defined as a characteristic feature of the syndrome. [2],[3],[4],[5],[6] However, we would like to draw attention that our case of NLS was diagnosed in an AGA newborn; therefore, we suggest that underlying pathogenesis of IUGR in NLS must be enlightened in further studies.

Chromosomal analysis had revealed a normal karyotype and an autosomal recessive inheritance. [3],[4],[5],[6],[7] Russo et al. described a case of Neu-Laxova syndrome in a stillborn female. She was born at 41 weeks of gestation to consanguinous Italian parents. In this case, the affected baby′s chromosomal analysis was normal and parents were first cousins supporting autosomal recessive mode of inheritance. [4]

The parents may be offered termination of the pregnancy when the fetus is suspected of NLS. Prenatal ultrasound findings of microcephaly, sloping forehead, exophthalmos, small thorax and abdomen, hypoplastic lungs, syndactyly, hyperextended knees, polyhydramnios, small placenta, and intrauterine growth restriction should indicate NLS. Absence of breathing movements, sucking, swallowing, or normal isolated arm and leg movements may also be detected in the third trimester. [4] Manning et al. presented two patients with NLS with striking prenatal diagnostic findings. Data from these patients had suggested that the NLS represents a heterogeneous phenotype with prenatal ultrasound findings of marked ocular proptosis in a growth-restricted, edematous fetus. [6]

In another report from Turkey, Mihci et al. described a case of Neu-Laxova syndrome in a fetus at 22 weeks with ultrasonographic findings of characteristic facial features, limb contractures, kyphosis, and polyhydramnios. [7]

Forty-two cases of Neu-Laxova syndrome had been reported by Driggers et al. Only 4 of those cases had been diagnosed prenatally. At 19 weeks of gestation, the authors had presented the earliest reported prenatal diagnosis of Neu-Laxova syndrome in a primi gravida with a non-informative family history. [8]

In our case, the mother had a lack of prenatal care and had not undergone any prenatal ultrasonographic examination. Therefore, the patient could not be diagnosed prenatally.

Approximately 50% of cases of NLS have been associated with ichthyosis. The inherited ichthyoses are a group of diseases characterized by massive hyperproliferation of the epidermis; and they result in a restrictive, parchment-like encasement of thickened skin and are often associated with genetic syndromes. An extreme sample of these is harlequin fetus, in which the armor-like covering of skin is so restrictive as to be incompatible with life. [9] In our case, NLS was diagnosed due to presence of additional findings such as microcephaly, facial abnormalities, short neck, limb contractures, etc.

Because of the autosomal recessive inheritance of NLS, in countries with high rates of consanguinous marriage, such as Turkey, it is important that physicians should consider this syndrome, and serial prenatal ultrasound examinations should be performed on pregnant women at high risk. Moreover, the association between intrauterine growth retardation and NLS is not consistent.

References
1.
Neu RL, Kajii T, Gardner LI, Nagyfy SF. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 1971;47:610-2.
[Google Scholar]
2.
Shapiro I, Borochowitz Z, Degani S, Dar H, Ibschitz I, Sharf M. Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. Am J Med Genet. 1992 1;43:602-5.
[Google Scholar]
3.
Naveed, Manjunath CS, Sreenivas V. New manifestations of Neu-Laxova syndrome. Am J Med Genet 1990;35:55.
[Google Scholar]
4.
Russo R, D'Armiento M, Martinelli P, Ventruto V. Neu-Laxova syndrome: Pathological, radiological, and prenatal findings in a stillborn female. Am J Med Genet 1989;32:136-9.
[Google Scholar]
5.
Broderick K, Oyer R, Chatwani A. Neu-Laxova syndrome: A case report. Am J Obstet Gynecol 1988;158:574-5.
[Google Scholar]
6.
Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE. Neu-Laxova syndrome: Detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet A 2004;125:240-9.
[Google Scholar]
7.
Mihci E, Simsek M, Mendilcioglu I, Tacoy S, Karaveli S. Evaluation of a fetus with Neu-Laxova syndrome through prenatal, clinical, and pathological findings. Fetal Diagn Ther 2005;20:167-70.
[Google Scholar]
8.
Driggers RW, Isbister S, McShane C, Stone K, Blakemore K. Early second trimester prenatal diagnosis of Neu-Laxova syndrome. Prenat Diagn 2002;22:118-20.
[Google Scholar]
9.
Hickey P, Piantanida E, Lentz S, Kenner J. Neu -Laxova Syndrome: A case report. Pediatr Dermatol 2003:20;25-7.
[Google Scholar]

Fulltext Views
1,598

PDF downloads
1,751
Show Sections