Congenital Hypotonia: Is There an Algorithm?

Paro–Panjan, Darja; Neubauer, David

doi:10.1177/088307380401900608

Cited by 58 publications

(60 citation statements)

References 7 publications

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“…Cerebral causes predominate and one series (12) suggested that this group of disorders might explain up to 88% of cases. Prader-Willi syndrome was particularly important.…”

Section: Discussionmentioning

confidence: 99%

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A schematic approach to hypotonia in infancy

Leyenaar

Camfield

2005

Paediatrics &Amp; Child Health

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J Leyenaar, P Camfield, C Camfield. A schematic approach to hypotonia in infancy. Paediatr Child Health 2005; 10(7):397-400.Hypotonia may be the presenting sign for many systemic diseases and diseases of the nervous system. The present paper discusses a rational, simple and accurate diagnostic approach to hypotonia in infancy, illustrated by the case of a five-month-old infant girl recently referred to the IWK Health Centre in Halifax, Nova Scotia. Key points in the history and physical examination are outlined to allow a tailored investigation both for the patient and for other hypotonic infants. A discussion of an important neuromuscular disease, diagnosed in the present patient, concludes the paper.Key Words: Hypotonia; Infant; Spinal muscular atrophy Une démarche schématique envers l'hypotonie pendant la première enfance L'hypotonie peut être le signe révélateur de nombreuses maladies systémiques ou du système nerveux. Le présent article traite d'une démarche diagnostique rationnelle, simple et précise envers l'hypotonie pendant la première enfance, illustrée par le cas d'une fillette de cinq mois récemment aiguillée vers le IWK Health Centre de Halifax, en NouvelleÉcosse. Les principaux points de l'anamnèse et de l'examen physique sont exposés afin de permettre une exploration personnalisée de la patiente et des autres nourrissons hypotoniques. Un exposé sur une importante maladie neuromusculaire, diagnostiquée chez la patiente, conclut l'article.

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“…Cerebral causes predominate and one series (12) suggested that this group of disorders might explain up to 88% of cases. Prader-Willi syndrome was particularly important.…”

Section: Discussionmentioning

confidence: 99%

“…Several studies have addressed the relative frequency of the various causes of neonatal/infantile hypotonia (11,12). Cerebral causes predominate and one series (12) suggested that this group of disorders might explain up to 88% of cases.…”

Section: Discussionmentioning

confidence: 99%

A schematic approach to hypotonia in infancy

Leyenaar

Camfield

2005

Paediatrics &Amp; Child Health

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“…Hipotoni; %60 oranında genetik ve metabolik nedenlerle oluşmaktadır (6,7,10). Çalışma grubumuzun büyük bölümünü genetik sendromlar ve metabolik hastalıklar oluşturmuştur.…”

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Is an Algorithm Useful in the Differential Diagnosis of the Hypotonic Infant? Evaluation of 53 Cases

Özaydın¹,

Ürey²,

Gündüz³

et al. 2013

Turkish J Pediatr Dis

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ÖzETAmaç: Bu çalışmanın amacı, hipotonik bebeklerin tanı profilini belirlemek ve tanı sürecinde bir algoritmanın gerekliliğini analiz etmektir. Gereç ve Yöntemler:Çalışmaya hipotoni şikayetiyle kabul edilen 53 hasta dahil edildi. Hipotonik bebekler klinik bulgularına göre iki gruba ayrıldı: Santral ve periferik. Klinik verilerin analizi ve araştırmaların sonuçlarıyla altı basamaklı bir algoritma oluşturuldu. bulgular: Otuz sekiz hastada santral hipotoni ve 15 hastada periferik hipotoni mevcuttu.Santral hipotonili hastalara dikkatli bir anamnez ve fizik muayeneden sonra basit karyotip analizi ve kranial görüntüleme ile %57.8 oranında tanı konulabildi. Nörometabolik hastalıklara daha ileri tetkiklerle tanı konuldu. Birinci basamak (klinik veriler ve fizik muayene) ve 2. basamak (kranial BT, MRI) 21 hastanın tanısını çözdü. Üçüncü basamakta (dismorfik bulgularla literatür taraması) ve dördüncü basamak (karyotip analizi) sonunda 6 hastanın tanı alması sağlandı. Beşinci basamakta biyokimyasal testlerle hastaların % 15'ine tanı konuldu. Altıncı basamaktaki testler (CK, EMG, SMA ve KMD için DNA analizi, kas biopsisi) 7 hasta için tanı koydurucuydu. Kalan dokuz hastaya tanı konulamadı.sonuç: Hipotonik infantların sistemik değerlendirilmesinde gereksiz tanı koydurucu işlemlerin yapılmasını önlemek amacıyla bir algoritmanın kullanılması yararlı olacaktır.Anahtar sözcükler: Algoritma, Ayırıcı tanı, Hipotoni, İnfant AbsTRACTObjective: The aim of this study was to determine the diagnostic profile of infants with hypotonia and to analyze the necessity of an algorithm in the diagnostic process. Material and Methods:Fifty-three patients admitted with the complaint of hypotonia were included in the study. The hypotonic infants were divided into two groups: central and peripheral hypotonia. An algorithm containing six steps was constructed with the analysis of clinical data and results of investigations.Results: Thirty-eight infants had central hypotonia and 15 had peripheral hypotonia. Through a careful medical history and physical examination, a diagnosis was made in 57.8% of the patients with hypotonia by a simple karyotype analysis and cranial MRI. The neurometabolic diseases were diagnosed with further investigations.Step 1 (clinical data and physical examination) and Step 2 (cranial CT, MRI) provided the diagnosis of 21 patients.Step 3 (literature search with dysmorphic findings) and Step 4 (karyotype analysis) contributed to the diagnosis of 6 patients. The diagnosis required biochemical tests in Step 5 in 15 percent of the patients. TheStep 6 tests (CK, EMG, DNA analysis for SMA and CMD, muscle biopsy) were diagnostic for 7 patients. The remaining nine patients could not be diagnosed. Conclusion:An algorithm would be useful for the systematic evaluation of hypotonic infants to prevent unnecessary diagnostic procedures.

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“…The selective use of neuroimaging, genetic studies, and biochemical investigations can contribute to a diagnosis in an additional subset of patients. Invasive studies with EMG and muscle biopsy only contribute to a small fraction of diagnoses 15 (Table 5). …”

Section: Introductionmentioning

confidence: 99%

Clinical approach to a floppy infant

Wijesekara

2013

Sri Lanka J Child Health

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Congenital Hypotonia: Is There an Algorithm?

Cited by 58 publications

References 7 publications

A schematic approach to hypotonia in infancy

A schematic approach to hypotonia in infancy

Is an Algorithm Useful in the Differential Diagnosis of the Hypotonic Infant? Evaluation of 53 Cases

Clinical approach to a floppy infant

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