Heart Failure and Short Stature in a 43 year-old male
نویسندگان
چکیده
We present a case of a 7-month-old Filipino who manifested with generalized muscle atrophy and areflexia. She had weak gag reflex and tongue fasciculations. She eventually developed feeding difficulty and recurrent pneumonia. Laboratory work-up showed a slightly elevated serum creatinine kinase (CK) and myopathic changes on electromyography and nerve conduction velocity (EMGNCV) studies. Genetic study confirmed that the patient was homozygous for deletions on exons 7 and 8 of the survival motor neuron (SMN) 1 gene. Carrier testing on both parents revealed that only the mother was a confirmed carrier of the SMN1 gene deletion. The challenges for genetic counseling in this case are discussed.
منابع مشابه
A Study on the Causes of Short Stature in 11-14 Year-old-Girls in Shiraz City
This article has no abstract.
متن کاملPrevalence of Stunting and Some Related Factors in 6-year-old Children in Rafsanjan City in 2018: A Cross-Sectional Study
Background and Objectives: Height growth is one of the indicators of health level in a society that affect children’s health. This study aimed to determine the prevalence of short stature and some related factors in 6-year-old children in Rafsanjan. Materials and Methods: In this cross-sectional study, 521 children aged 6 years referring to health centers of Rafsanjan in 2018, were studied by ...
متن کاملسندرم نونان (گزارش یک مورد)
Noonan syndrome is a genetic condition inherited by an autosomally dominant manner, characterised by congenital heart disease, short stature, abnormal facies and the somatic feature of Turner's syndrome, but a normal karyotype. Noonan syndrome affects approximately 1 in 1500 live births. Congenital heart disease occurs in 35-50% of patients diagnosed with noonan syndrome. The most common cardia...
متن کاملBloom’s syndrome: A case presentation
Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremitie...
متن کاملCONGESTIVE HEART FAILURE IN CHILDREN: A SURVEY OF 114 PATIENTS
During a period of four years between June, IS, 1988 to June, IS, 1992 one hundred and fourteen patients with congestive heart failure (CHF) were admitted to the pediatric department of Taleghani General Hospital. During the above period, 192 patients with heart disease were hospitalized at this department and CHF was the cause of admission in 59.4% of them. Congenital heart disease (CHO) w...
متن کامل[XYY male with total anomalous pulmonary venous return and short stature].
OBJECTIVE To report a case of a 47 XYY male neonate with congenital heart disease and short stature. DESCRIPTION This is the first case report of a 47 XYY male neonate associated with congenital heart disease (total anomalous pulmonary venous return) and small for date. The boy neonate was born at around 32 weeks of gestation with birthweight of 1134 g. An intracranial hemorrhage and pulmonar...
متن کامل