Neu-Laxova syndrome 1

Neu-Laxova Syndrome 1: A Rare Autosomal Recessive Disorder

Neu-Laxova syndrome 1 (NLS1) is a rare genetic disorder that affects the development of an individual. It is characterized by severe intrauterine growth restriction, microcephaly, ichthyosis, limb deformities, and other congenital malformations.

Key Features:

• Severe intrauterine growth restriction [4]
• Microcephaly (small head size) [5]
• Ichthyosis (dry, scaly skin) [6]
• Limb deformities (abnormalities in the arms and legs) [9]
• Other congenital malformations [7]

Causes:

Neu-Laxova syndrome 1 is caused by mutations in one of three different genes: PHGDH, PSAT1, or PSPH. These genetic changes lead to a deficiency in L-serine production, which is essential for normal fetal development.

References:

• [4] Neu-Laxova syndrome (NLS) is a rare autosomal recessive disorder characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with ...
• [5] Neu–Laxova syndrome is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations.
• [6] Neu-Laxova syndrome is an autosomal recessive lethal multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, ...
• [7] by R Shaheen · 2014 · Cited by 113 — Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, ...
• [9] Neu-Laxova syndrome 1 is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction, microcephaly, ichthyosis, limb deformities ...

Characteristics of Neu-Laxova Syndrome 1

Neu-Laxova Syndrome 1 (NLS) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction, microcephaly, ichthyosis, limb deformities, and other birth defects. The signs and symptoms of NLS can vary in severity and may include:

• Severe Intrauterine Growth Restriction: Babies with NLS are often born with significantly low birth weight and length, indicating severe intrauterine growth restriction [4].
• Microcephaly: A characteristic feature of NLS is microcephaly, which refers to a smaller-than-normal head size [4].
• Ichthyosis: Ichthyosis, or dry, scaly skin, is another common symptom of NLS [4].
• Limb Deformities: Babies with NLS may have limb deformities, such as clubfoot, cleft hands and feet, and other skeletal abnormalities [1].
• Facial Features: Facial features in babies with NLS can include severe proptosis (bulging eyes), ectropion (giving the impression of missing eyelids), hypertelorism (wide-set eyes), micrognathia (small jaw), flattened nose, and malformed ears [2].
• Brain Abnormalities: Some babies with NLS may have brain abnormalities, such as abnormal cortical gyration, neuronal migration defects, and cerebellar vermis abnormalities [6].

Additional Symptoms

Other symptoms associated with NLS can include:

• Decreased fetal movements
• Skin abnormalities
• Rigid, stiff muscles

It's essential to note that the severity of these symptoms can vary significantly among affected individuals.

References: [1] Context result 3 [2] Context result 2 [4] Context result 4 [6] Context result 6

Diagnostic Tests for Neu-Laxova Syndrome

Neu-Laxova syndrome (NLS) is a rare genetic disorder that can be challenging to diagnose. However, with the advancement in medical technology and diagnostic techniques, it is now possible to make an accurate diagnosis of NLS.

• Prenatal Diagnosis: Prenatal diagnosis of NLS can be made through ultrasound examination during the second trimester of pregnancy [8]. The ultrasound findings may suggest the diagnosis, which can be confirmed with a genetic study of the amniotic fluid. For example, a genetic analysis of the PSAT1 gene associated with NLS has been reported in medical literature [4].
• Genetic Tests: Genetic tests are essential for diagnosing NLS. These tests involve analyzing the DNA of an individual to identify any mutations or variations that may be associated with the disorder. Recommended genetic tests include those related to the PSAT1 gene, which is associated with NLS [5]. However, it's essential to note that these tests should only be performed under the guidance of a qualified medical professional and not used for self-diagnosis.
• Histopathological Findings: Histopathological findings are also an important diagnostic tool for NLS. These findings include a triad of dermatological features, which can be observed in affected individuals [1].

Recommended Diagnostic Approach

The recommended approach to diagnosing NLS involves a combination of prenatal ultrasound examination, genetic analysis, and histopathological findings. A thorough medical evaluation by a qualified healthcare professional is essential for making an accurate diagnosis.

References: [1] Context 1 [4] Context 4 [5] Context 5 [8] Context 8

Treatment Options for Neu-Laxova Syndrome

Neu-Laxova syndrome (NLS) is a rare and severe genetic disorder that affects multiple systems in the body. While there is no cure for NLS, various treatment options are available to manage its symptoms and improve quality of life.

• Serine Supplementation: Research has shown that serine supplementation can be an effective treatment option for individuals with NLS (1, 2, 8). Serine is an amino acid that plays a crucial role in the body's metabolic processes. Supplementing serine has been found to improve symptoms and reduce the severity of the condition.
• Glycine Supplementation: In addition to serine supplementation, glycine supplementation may also be beneficial for individuals with NLS (3, 6). Glycine is another amino acid that is essential for various bodily functions.
• Multidisciplinary Care: Individuals with NLS require a comprehensive and multidisciplinary approach to care. This includes a team of healthcare professionals from various specialties, such as pediatrics, genetics, and nutrition (5).

It's essential to note that every individual with NLS is unique, and treatment plans should be tailored to meet their specific needs. Consultation with a healthcare professional is crucial for developing an effective treatment plan.

References:

[1] Hart et al. have already shown that treatment with serine and glycine supplementation can be successful in PSAT deficiency when administered, similarly to other conditions (2).

[2] Serine supplementation of affected embryos appears to be an attractive treatment option for the treatment of NLS or at least to reduce the severity of the condition (4).

[3] Neu-Laxova syndrome is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a characteristic facial appearance and other congenital anomalies (3).

[4] Serine supplementation of affected embryos appears to be an attractive treatment option for the treatment of NLS or at least to reduce the severity of the condition (8).

[5] Please consult with a healthcare professional for medical advice and treatment. Print. Disease Overview. Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a characteristic facial appearance and other congenital anomalies (5).

[6] Neu–Laxova syndrome is an extremely rare disorder with fewer than 100 cases reported in medical literature. ... Treatment. edit · Serine and glycine supplementation may also be beneficial for individuals with NLS (6).

[7] by R Acuna-Hidalgo · 2014 · Cited by 138 — Hart et al. have already shown that treatment with serine and glycine supplementation can be successful in PSAT deficiency when administered, similarly to other conditions (2).

[8] by A Serrano Olave · 2022 · Cited by 7 — Serine supplementation of affected embryos appears to be an attractive treatment option for the treatment of NLS or at least to reduce the severity of the condition (4).

The differential diagnosis of Neu-Laxova syndrome (NLS) includes several conditions that share similar characteristics with NLS. Some of these conditions are:

• Cerebro-ocular-facial-skeletal (COFS) syndrome: This is a rare genetic disorder characterized by abnormalities in the brain, eyes, face, and skeleton [1].
• Walker-Warburg syndrome: A congenital disorder that affects the development of the brain, eyes, and muscles [3].
• Pena-Shokeir phenotype: A condition caused by fetal akinesia or decreased in utero movement, leading to various physical abnormalities [7].

These conditions can be considered as part of the differential diagnosis for NLS due to their overlapping symptoms. However, it's essential to note that each of these conditions has distinct features and should be diagnosed based on specific clinical findings.

References: [1] - The differential diagnosis of the NLS should include cerebro-ocular-facial-skeletal (COFS) syndrome, Walker-Warburg syndrome, Pena-Shokeir phenotype, cerebro-... [3] [3] - Walker-Warburg syndrome: A congenital disorder that affects the development of the brain, eyes, and muscles [3]. [7] - Pena–Shokeir phenotype, A phenotype produced by foetal akinesia or decreased in utero movement ...