A Case of Noonans Syndrome with haematologic disorder and

cardiac abnormalities

Octo Indradjaja, Nanny NM SoetedjoAugusta YL Arifin, Hikmat Permana
Division of Endocrinology & Metabolism, Department of Internal Medicine,
Padjadjaran University Medical School, Hasan Sadikin Hospital,Bandung,Indonesia


Introduction

Noonan syndrome (NS) is a relatively common autosomal dominant congenital
disorder that affects both males and females equally. It used to be referred to as the
male version of Turner's syndrome
[2]
(and is still sometimes described in this
way);
[3]
however, the genetic causes of Noonan syndrome and Turner syndrome are
distinct. The principal features include congenital heart defect (typically pulmonary
valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning
problems, pectus excavatum, impaired blood clotting, and a characteristic
configuration of facial features including a webbed neck and a flat nose bridge.
It is believed that between approximately 1 in 1,000 and 1 in 2,500 children
worldwide are born with NS. It is one of the most common genetic syndromes
associated with congenital heart disease, similar in frequency to Down syndrome.
However, the range and severity of features can vary greatly in patients with NS.
Therefore, the syndrome is not always identified at an early age.
Noonan syndrome is caused by a genetic mutation and is acquired when a
child inherits a copy of an affected gene from a parent (dominant inheritance). It can
also occur as a spontaneous mutation, meaning there's no family history involved.
There's no specific treatment for Noonan syndrome. Management focuses on
controlling the disease's symptoms and complications. Growth hormone may be used
to treat short stature in some people with Noonan syndrome.



Case report description

A 18-year-old male patients had complaints of growth retardation and dyspnea
on exertion. The most of the typical finding of Noonans syndrome-dysmorphic
face,short stature,webbed neck and pectus carinatum. His blood pressure 100/60
mmHg, and his pulse was 130x/mnt. Cardiac auscultation revealed tachycardia. In
addition, aplastic anemia, mild RV dilatation,Trivial MR,moderate TR and mild PH
were diagnose. Although some haematologic disorder and cardiac abnormalities have
been reported in patients with this syndrome, a case with haematologic disorder and
numerous cardiac abnormalities has not been described previously



Physical feature of this patient





Laboratory Finding


04/10 05/10 06/10 07/10 08/10 12/10
Haemoglobin 2.1 6.1 6.1 9.7 11.2 11.4
Hematocrit 6 18 19 29 33 34
Leucocyte 2920 2000 2300 2100 2000 4400
Trombocyte 6280 22000 14000 50000 36000 23000
MCV 110 96.3 96.9 93.8 91.8 90.3
MCH 39.4 32.6 31.7 31.7 30.8 30.7
MCHC 35.6 33.9 33.8 33.8 33.5 34.0
Feritin 923.6
Diff count
0/0/0/22/77/1

reticulocyte 0.6



Echocardiographyc finding






They found Mild RV dilatation, Trivial MR, moderate TR, Mild PH, with normal LV
systolic function.


Discussion

Noonans syndrome reportedly affects 1 in 1000 to 1 in 2.500 persons. This
autosomal dominant condition can affect either sex and has a normal chromosomal
constitution.
The criteria for diagnosis are following : small stature, fair to good intelectual
development, micrognathia, epicanthus, ptosis, ocular hypertelorism, prominent low-
set ears, webbed neck, shield chest, cardiovascular anomalies, short fifth finger,
pectus excavatum, scoliosis, kyposis, pigmented nevi, dystrophic nails, and urogenital
anomalies.
Our patient has short stature and most of the aforementioned characteristic
features with cardiovascular anomalies like Mild RV dilatation, Trivial MR, moderate
TR, Mild PH, so we concluded that the patient had NS although we do not check
following genes are known to cause NS, such as PTPN11 (50%) RAF1 (3-17%)
SOS1 (10%), KRAS (1%) , NRAS or BRAF because incurance did not cover gene
examination.
.


Conclussion

Noonans syndrome is a rare disorder with characteristic clinical features and
cardiac abnormalities. Although previously reported cases have described
haematologic and cardiovascular anomalies, on review of the literature we found no
other case with aplastic anemia and cardiac abnormalities

Reference :
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"[Noonan's syndrome. (Male Turner's syndrome, Turner-like
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