Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome
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Abstract:
Abstract Potocki–Lupski syndrome (PTLS) is a genetic disorder that results from an interstitial duplication within chromosome 17p11.2. Children with PTLS typically present with infantile hypotonia, failure to thrive, and global developmental delay with or without major organ system involvement. Systematic clinical studies regarding growth, cardiovascular disease, and neurocognitive profiles have been published; however, systematic evaluation of central nervous system structure by magnetic resonance imaging (MRI) of the brain has not been reported. Herein, we describe three patients with PTLS who were found—in the course of routine clinical care—to have a type 1 Arnold‐Chiari malformation (CM‐1). This finding raises the question of whether the incidence of CM‐1 is increased in PTLS, and hence, if an MRI of the brain should be considered in the evaluation of all patients with this chromosomal duplication syndrome.Keywords:
Genetic disorder
Etiology
Failure to Thrive
dup
Neurodevelopmental disorder
Neurocognitive
A 12-month-old girl was referred to the pediatric neuromuscular clinic for evaluation of hypotonia and weakness based on concerns from her pediatrician. The patient was born at term following an uncomplicated pregnancy, but developed failure to thrive and gross motor delays (unable to lift head in prone position) around 4 months of age. By 7 months of age, she began having episodes of bradypnea, tiring during feeds, acrocyanosis, and perioral cyanosis during periods of agitation.
Failure to Thrive
Girl
Muscle Hypotonia
Gross motor skill
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We report on a boy with a direct tandem duplication of 9(q12-q33) and dolichocephaly, beaked nose with prominent philtrum, deep-set eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the "trisomy 9q syndrome" described by Turleau et al. [1975].
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Failure to Thrive
Microcephaly
Trisomy
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Berichtet wird über einen Säugling, der postnatal durch eine ausgeprägte Muskelhypotonie, Trinkschwäche und Gedeihstörung auffiel und nachfolgend eine verzögerte statomotorische Entwicklung zeigte. Zusätzlich waren ein blasses Hautkolorit, Lid-, Hand- und Fußrückenödeme, ein beidseitiger Kryptorchismus und eine Retrogenie zu erkennen. Der übrige Untersuchungsbefund war unauffällig. Die klinische Diagnose eines Prader-Labhart-Willi-Syndroms wurde im Alter von 5 Monaten gestellt und molekulargenetisch bestätigt.
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Muscle Hypotonia
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Angelman syndrome (AS) is a rare pediatric neurological condition in which patients most commonly present with inappropriate laughter, microcephaly, speech difficulties, seizures, and movement disorders. AS can be diagnosed clinically and confirmed with genetic testing. In this case report, the patient presented with 9.3% weight loss at two days of age. Although there were multiple attempts at lactational counseling and nutritional guidance, the patient was admitted to the hospital due to failure to thrive. Due to continued global developmental delay and upper and lower extremities hypotonia by the age of nine months, the patient was referred to a neurologist. Brain MRI was negative, and genetic testing revealed 15q11.2q13.1 deletion, which is consistent with AS. Through different therapies and intervention, the patient showed slow improvements in symptoms. This case illustrates the importance of early recognition of nonspecific clinical manifestations of AS. The general management for all AS patients includes physical therapy, speech therapy, mobility support devices, education, and behavioral therapy as they progress through life. Establishing an early diagnosis has potential long-term benefits of improved quality of life and outcomes for patients via early interventions such as physical therapy starting at the age of six months to improve gross motor function. When infants present with nonspecific clinical presentations such as failure to thrive and hypotonia, clinicians should maintain a lower threshold for suspecting genetic conditions, which will facilitate early diagnosis of AS.
Failure to Thrive
Angelman Syndrome
Microcephaly
Developmental Milestone
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Growth charts of five children with Prader-Labhart-Willi syndrome were examined. Clinical diagnosis was based on usual features of this condition. These included hypotonia in infancy, obesity, mental retardation, short stature, undescended testes in boys and typical physical features. Extensive investigations have failed to reveal pathognomonic abnormalities in this syndrome. Obesity and failure to thrive, beginning in early infancy and increasing with age is a precocious and typical feature. This pattern helps to early diagnosis. Only congenital hypothyroidism could show a similar pattern.
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Growth retardation
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We report on a girl with inverted duplication and deletion of 10q25q26 revealed by array-CGH and FISH analysis. Array-CGH analysis demonstrated a ∼13.1-Mb duplication encompassing 10q25.3q26.2 and a ∼5-Mb deletion at 10q26.2q26.3. No single-copy region was detected between the deleted and duplicated segments. FISH analysis found the arrangement duplicated in an inverted position. FISH analysis using the same probes did not show any abnormality in both parents, which indicates a de novo occurrence. The frequently reported features of distal 10q duplication include developmental delay, blepharophimosis, hypotonia, skeletal anomalies and some facial dysmorphisms. The girl presented with many features of distal 10q duplication with the exception of skeletal anomalies. To our knowledge, this is the fourth patient reported in the literature with inv dup del 10q. 10q duplication seems to account for most of the phenotypes for our patient. Although no obvious skeletal feature was found in our patient at present, follow-up assessment of skeletal development should be planned with the increase of age.
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We report on a case of de novo direct duplication for the distal part of chromosome 3p: 46, XY, dir dup (3) (p25→pter). At the age of 4 years and 7 months, the boy presented with moderate growth and mental retardation, muscular hypotonia, hypoplasia of the left kidney, a short neck, and a square‐shaped face characterized by a broad and flat nasal bridge, slight epicanthus, and full cheeks. So far, only a few cases with such a small distal 3p duplication have been described, and none of them has a de novo direct duplication for this region. In our patient, dysmorphic signs are less impressive, and developmental delay is relatively moderate.
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Duplication of a portion of Xq has been observed in males with abnormalities. In some cases, their mothers or even grandmothers had the same duplication but did not show any phenotypic abnormalities. However, a few cases of females with a de novo Xq duplication do present some abnormalities. We describe a 16-month-old girl with short stature, motor delay with hypotonia, scoliosis, right hemiatrophy, and ptosis of the right eye, with an Xq duplication. The duplicated region is read dir dup(X)(q22.1q25). Am. J. Med. Genet. 87:302–305, 1999. © 1999 Wiley-Liss, Inc.
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Trisomy
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Prader-Willi Syndrome (PWS) is a disorder resulting from a loss of genetic information on chromosome 15q11.2-q13 inherited from the father. It can be caused by paternal deletions (65-75%) or uniparental maternal disomy (20-30%). The prevalence of PWS is estimated to be 1/10,000 - 1/20,000 births.1 Although its incidence is relatively rare, PWS can cause major health problems for patients and decreased quality of life for their families.
The course of PWS is characterized by severe hypotonia in the neonatal period, severe feeding problems resulting in growth failure, as well as small hands and feet. Hypogonadism manifests as genital hypoplasia, delayed puberty, and infertility. Children with PWS have delayed motor and language development. Most patients have some degree of intellectual disability. Hyperphagia and obesity occur in early childhood. The patient’s excessive eating behavior affects the patient’s and family’s quality of life, and is often responsible for high morbidity and mortality.
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Genetic disorder
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