Battaglia Neri Syndrome - Causes, Symptoms, Diagnosis, and Treatment

Introduction

Battaglia Neri syndrome is also known by other names. The other synonyms for Battaglia Neri syndrome include epilepsy-microcephaly-skeletal dysplasia, mental retardation, microcephaly, epilepsy, and coarse face. The synonyms of Battaglia Neri syndrome describe the characteristic body features present in Battaglia Neri syndrome. The Battaglia Neri syndrome is common in all genders and is commonly present in siblings. It is suggested that the etiology for the incidence of Battaglia Neri syndrome is genetic. The intellectual difficulty and disabilities in walking are also features of Battaglia Neri syndrome, and there is no specific treatment for Battaglia Neri syndrome. Instead, the therapy is given to manage the symptoms.

What Is Battaglia Neri Syndrome?

Battaglia Neri syndrome is a rare genetic disorder characterized by multiple congenital anomalies. Battaglia Neri syndrome is a dysmorphic syndrome with developmental delay, intellectual disability, seizures, hypotonia, microcephaly, and uncertainty in the maturation of the bone. Battaglia Neri syndrome is also characterized by skeletal abnormalities, which include scoliosis and pectus excavatum. Battaglia Neri syndrome is an autosomal recessive disorder, and some of the cases are found in siblings with similar features to Battaglia Neri syndrome.

What Causes Battaglia Neri Syndrome?

The exact etiology of Battaglia Neri syndrome is unknown, but it is observed that Battaglia Neri syndrome is an autosomal recessive inherited genetic disorder. The abnormal gene inherits from the non-sex chromosomes, causing the abnormal recessive disorder or traits. The parents with the autosomal recessive disorder will pass the mutation to their children. The homozygous dominant children are unaffected, and the heterozygous act as the disorder carrier, whereas the homozygous recessive children are affected with Battaglia Neri syndrome. Battaglia Neri syndrome is an inherited disorder; one of the risk factors of Battaglia Neri syndrome is a positive family history.

What Are the Symptoms of Battaglia Neri Syndrome?

The Battaglia Neri syndrome is a dysmorphic syndrome in which the features are evident in most cases. It has no gender or ethnic preferences. The general characteristics of Battaglia Neri syndrome include several features. The abnormalities of the head and neck, abnormalities of the integument, and abnormalities in the central nervous system and musculoskeletal system are the various defects in Battaglia Neri syndrome. Some of the signs and symptoms are mentioned below.

• Coarse hair.

• Coarse facial features.

• Hirsutism is the condition that refers to the unwanted hair growth following a male pattern in the woman's face, back, and chest regions due to the excess male hormones called androgen secretion.

• Eyebrows will be thick.

• The nasal septum is broader.

• The short philtrum is the groove between the nose and the upper lip border.

• Largemouth.

• Ears will be prominent.

• Delayed bone maturation.

• Intellectual disability.

• Microcephaly, the size of the head is smaller than usual.

• Scoliosis is abnormal lateral spine curvature.

• Seizures.

• Pectus excavatum is called the condition where the breastbone sinks into the chest.

What Is the Diagnosis of Battaglia Neri Syndrome?

The complete physical examination is the primary diagnostic measure of Battaglia Neri syndrome. The diagnosis is based on medical history, and the signs and symptoms are assessed. An additional test is done to rule out the clinical features of Battaglia Neri syndrome. Some diagnostic tools for diagnosing Battaglia Neri syndrome are given below.

• History of the patient.

• Thorough medical history.

• Physical examination for assessing signs and symptoms.

• Laboratory tests.

• Imaging techniques.

• If it is necessary, a biopsy is taken.

What Is the Treatment of Battaglia Neri Syndrome?

The treatment is primarily done to manage the symptoms. Since it is found to be a genetic disorder, there is no specific cure for it. Therefore, the signs and symptoms should be managed to avoid complications. The various management methods to treat the symptoms of Battaglia Neri syndrome are mentioned below.

• Genetic counseling is done for the parents before planning for a child.

• Active research to increase the possibilities of treatment measures for the genetic disorder.

• Regular medical screening tests.

• Physical examinations at regular periodic intervals.

What Are the Complications of Battaglia Neri Syndrome?

Apart from the dysmorphic features, Battaglia Neri syndrome has various complications. Below are some risk factors that increase the complications of Battaglia Neri syndrome.

• Walking problems.

• Negative life experiences.

• Societal pressure.

• Beauty expectations.

• Anxiety.

• Depression.

The complications of the Battaglia Neri syndrome are mentioned below.

• Low self-esteem.

• Obsessive-compulsive disorder.

• Loss of intellectual ability in severe cases.

• Social phobia.

• Physical pain.

• Major depression.

• Mood disorders.

• Suicidal thoughts and behavior.

What Is the Differential Diagnosis of Battaglia Neri Syndrome?

The clinical conditions of Battaglia Neri syndrome are similar to other disorders. Therefore, comparing symptoms will avoid misdiagnosis and help in the differential diagnosis. Some of the differential diagnoses of Battaglia Neri syndrome are mentioned below.

• Multiple epiphyseal dysplasias.

• Camurati-Eagleman disease.

• Marfan's syndrome.

• Schwartz-jampel syndrome.

• Cushing's syndrome.

• Hyperprolactinemia.

• Congenital adrenal hyperplasia.

• Iatrogenic Cushing syndrome.

• Autism.

• Down syndrome.

• Poor growth.

• Zellweger syndrome.

• Congenital hypothyroidism.

• Hypotonia.

Conclusion

Battaglia Neri syndrome or epilepsy-microcephaly-skeletal dysplasia, Mental retardation, microcephaly, epilepsy, and coarse face is a sporadic genetic disorder that is characterized as the dysmorphic syndrome with developmental delay, intellectual disability, seizures, hypotonia, microcephaly and delays in the maturation of the bone and in association with the skeletal abnormalities which includes scoliosis and pectus excavatum. The etiology of Battaglia Neri syndrome is autosomal inherited recessive disorder, and it does not follow any gender and race preferences. The signs and symptoms of Battaglia Neri syndrome include abnormalities in the head, integument, central nervous system, and skeletal abnormalities. Battaglia Neri syndrome has various differential diagnoses, and the confirmed diagnosis of Battaglia Neri syndrome is made. Since it is a genetic disorder, no specific treatment is available for Battaglia Neri syndrome, and symptomatic management is done. There are no preventive measures for Battaglia Neri syndrome, and supportive treatment is given with proper nursing and parenting. Parent counseling is provided before planning a child can be done to avoid the risk of Battaglia Neri syndrome.