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A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.

ABSTRACT: Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in urine. In the prenatal period, polyhydramniosis, intrauterine growth retardation, enlarged brain ventricles and brain anomalies are observed. Growth and development failure, hypotonia, seizures and brain atrophy are the common characteristics of patients with fumarase deficiency. On cranial imaging, the most common findings include polymicrogyria and ventriculomegaly. In our country where consanguineous marriages are common, the incidences of autosomal recessive diseases are expected to be high. In a patient who was born from a consanguineous marriage and referred to our hospital at the age of 45 days because of hyperamonemia and opistotonus, a diagnosis of fumaric aciduria was made with organic acid analysis performed considering metabolic diseases and this diagnosis was supported with radiological investigations. We thought this case was worth presenting, since there was no case of fumaric aciduria reported before in our country.

SUBMITTER: Bastug O

PROVIDER: S-EPMC4462270 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.

Baştuğ Osman O Kardaş Fatih F Öztürk Mehmet Adnan MA Halis Hülya H Memur Şeyma Ş Korkmaz Levent L Tağ Zuhal Z Güneş Tamer T

Turk pediatri arsivi 20140301 1

Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in urine. In the prenatal period, polyhydramniosis, intrauterine growth retardation, enlarged brain ventricles and brain anomalies are observed. Growth and development failure, hypotonia, seizures and brain atrophy are the common characteristics of patients with fumarase deficiency. On cranial imaging, the most common findings include polymicrogyria and ventriculomegaly. I ...[more]

PMID: 26078636

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Project description:INTRODUCTION:Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infants with cyclopia, including stillbirths. Cyclopia typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye. Extracranial malformations described in stillbirths with cyclopia include polydactyl, renal dysplasia, and an omphalocele. The etiology of this rare syndrome, which is incompatible with life, is still largely unknown. Most cases are sporadic. Heterogeneous risk factors have been implicated as possible causes. CASE PRESENTATION:A live full-term baby with birth weight of 2900 g, product of cesarean section because of severe fetal bradycardia, was born at Prince Hashem Military Hospital - Zarqa city/Jordan. This newborn was the first baby to a non-consanguineous family, and a healthy 18-year-old mother, with no history of drug ingestion or febrile illnesses during pregnancy. Antenatal history revealed severe hydrocephalus diagnosed early by intrauterine ultrasound but the pregnancy was not terminated because of the lack of medical legitimization in the country. On examination, the newborn was found to have a dysmorphic face, with a median single eye, absence of nose, micrognathia, and a proboscis above the eye, all of which made cyclopia the possible initial diagnosis. Multiple unusual abdominal defects were present that include a huge omphalocele containing whole liver and spleen, urinary bladder extrophy, and undefined abnormal external genitalia, which called for urgent confirmation. Brain MRI was done and revealed findings consistent with alobar holoprosencephaly (cyclopia). CONCLUSION:Presentation of cyclopia is not fully exposed and new cyclopian syndromes still can appear. The prenatal diagnosis of cyclopia can be made early by ultrasound, and the awareness of the spectrum of sonographic findings of cyclopia can improve the accuracy of prenatal diagnosis. The legitimization of pregnancy termination for indexed cases in many countries around the world should be revised.

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A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.

Publications

A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.

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