- Email: [email protected]
Unforgettable patients
CLINICAL CONFERENCE
Unforgettable patients Richard B, G o l d b l o o m , o c , MD, FRCPC PATIENT
1
I can tell this story in all modesty because it reflects the brilliance of one of my colleagues, rather than any of mine. Some 20 years ago I received an urgent telephone call from a colleague who was practicing as the sole pediatric consultant in a community some 200 miles from our teaching hospital. She was sending a 3-week-old boy (the firstborn in his family) by ambulance with an infusion of physiologic saline solution, and she had also given him hydrocortisone intravenously. She stated with confidence that she was fairly certain that he had congenital adrenal hyperplasia (CAH) of the salt-losing variety. Medical staff members in tertiary care institutions are sometimes criticized because they react with cautious skepticism when a physician from afar refers a patient with a rather esoteric diagnosis already attached. I asked her why she seemed so certain that this baby had CAH. She replied that, for one thing, his dehydration and poor peripheral circulation were severe, out of proportion to the brief period of diarrhea and vomiting he had had; when she had determined his electrolyte values, the serum sodium concentration was remarkably low (123 retool/L), whereas the serum potassium concentration was at the upper limit of normal. When the infant arrived at our hospital, his circulation and dehydration had improved markedly, thanks to her treatment. With the "eye of faith," plus prior knowledge of her tentative diagnosis, one might have suggested that the baby's scrotum was a shade darker than average, but the penis was normal in size. Subsequent investigation confirmed her diagnosis of CAH, and the boy did extremely well with appropriate treatment. Diagnosing CAH with 21-hydroxylase deficiency in a male infant is easy enough when the infant has an affected older sibling of either sex. Genital changes in affected males may be absent or minimal in early infancy, and a pediatric
Dr. Goldbloompracticed pediatrics in Montreal, Quebec, Canada, for several years before accepting a full-time appointment at McGill University, in Montreal. In 1967 he moved to Halifax, Nova Scotia, to become Head of the Department of Pediatrics at Dalhousie University and Physician-in-Chiefat the Izaak Walton Killam Children's Hospital. 9/32/35223
endocrinologist is not usually the first physician to see such children. My astute colleague and this child taught me a memorable lesson. The clinical clue that should put one's thinking on the right track is the observation that the dehydration and vascular collapse are unusually severe in proportion to the reported gastrointestinal losses. Firstborn affected male infants are at a great disadvantage in not having an affected older sister with clitoral hypertrophy to suggest the diagnosis. However, failure to suspect the problem early on clinical grounds in an affected firstborn infant who has the misfortune to be male could cost the child dearly. PATIENT 2 In the mid-1950s, when numerous home visits were part of every pediatrician's daily fare, I made a house call in Montreal. I had cared for a &year-old boy--I'll call him Mark--for a couple of years. He had recurrent asthma, with clear-cut clinical allergic sensitivities (dust, animals, feathers) that usually explained exacerbations of his symptoms. The family lived in a small duplex in the city. On the day of my visit, his wheezing had begun suddenly around noon. The sudden onset of wheezing and the absence of antecedent respiratory symptoms hinted strongly at an acute allergic reaction to something, but try as I might I could not identify the offending allergen. I prescribed a bronchodilatot and was about to leave. While I was saying goodbye to the parents at the door, Mark's father said, "Oh, by the way, Doc--you don't suppose this could have anything to do with his duck?" "His what?" I responded. "Come here," he said, leading me by the arm toward the kitchen door, which was shut. He opened it cautiously, exposing a small white duck waddling contentedly around the kitchen. The family had visited a local farm market that very morning and had decided to purchase the duck as a pet for this boy. Although the parents were aware that Mark was allergic to feathers (as in pillows), the well-known anatomic association between feathers and birds had somehow escaped their notice. Most pediatricians have experienced the frustration of failing to root out a child's problem despite a lengthy, searching family interview, only to have a parent turn around as he or she is leaving the office and, with the typ-
827
828
Goldbloom
ical preface "Oh, by the way, Doc," casually drop the critical morsel of information that suddenly explains everything. It has happened to me more than once, but the duck in the kitchen is indelibly etched in my memory. PATIENT
3
I first saw Jeffrey (not his real name) in 1976. He was 11 months of age and had been referred because of marked growth delay. He had been born of unrelated parents at 41 weeks of gestational age, weighing only 2380 gm. He had a triangular facies, prominent frontal region, a small, pointed chin, and a high-arched palate. Head circumference was 45 cm. Developmental level was normal. A genetic consultant and I both thought that he had several features of Russell-Silver syndrome. Bone age was approximately 6 months. An intravenous urogram showed a left pelvic kidney. Because of a grade 1/6 systolic murmur, cardiology consultation was requested. The cardiologist confirmed a high-output state. The electrocardiogram showed a normal axis with potential in the upper normal range. I followed him at regular intervals thereafter, confirming his normal intellectual development. When I saw Jeffrey at 4 years of age, I found that marked hepatomegaly (9.6 cm vertical span) and moderate splenomagaly had developed. The clinical cardiac findings again indicated a high-output state. A chest radiograph showed moderate cardiomegaly and some prominence of the pulmonary vaseulature. The electrocardiogram now showed definite left ventricular hypertrophy and some STand T-wave changes as well. Jeffrey was admitted to the hospital for further investigation. An echocardiogram showed left atrial enlargement. A liver biopsy specimen was thought to suggest possible glycogen storage disease. A muscle biopsy specimen was normal. Karyotype was 46,XY. Extensive biochemical, hematologic, and endocrine investigations (including growth hormone and somatomedin assays) were unrewarding. Jeffrey was treated with a highcalorie, elemental diet and nasogastric feedings but without much improvement. Because of the cardiovascular findings and hepatomegaly, I was becoming progressively less comfortable with
The Journal o f Pediatrics November 1992
the diagnosis of Russell-Silver syndrome. When I saw Jeffrey at age 6 years, his height was 89 cm (height age, 21/2 years) and he weighed 10.5 kg (weight age, 14 months); he was as bright and voluble as ever, and full of questions. He opened the conversation by asking me whether midgets had to marry other midgets, and whether their children would also be midgets. He was extremely slender. His voice was high and squeaky. His liver was palpable 8 cm below the right costal margin. There was an angiomatous lesion on the right leg and foot, and slight pitting edema of both legs. He was readmitted to the hospital for further investigation. During this admission an astute cardiology resident pointed out the marked similarities between Jeffrey and an adult patient he had seen recently during a rotation on an adult cardiology service. The adult patient had severe constrictive pericarditis resulting from a rare syndrome known as Mulibrey nanism (then totally unknown to me). Briefly, further investigation revealed that Jeffrey also had constrictive pericarditis, and a pericardiectomy was carried out as a matter of urgency. Thereafter, his hepatosplenomegaly disappeared and his general health (although not his growth) improved. Today, at 16 years of age, his height is 124 cm (height age, 7 years) and his weight is 20 kg (weight age, 51,5 years). Mulibrey (an acronym for "muscle, liver, brain, eyes") nanism is an extremely rare autosomal recessive form of dwarfism. Most cases have been reported from Finland, with sporadic cases elsewhere. The main clinical features include severe progressive growth retardation of prenatal onset, a triangular head, a high-arched palate, slenderness and muscular hypotonia, normal psychomotor development, and yellowish dots and dispersed pigment in the ocular fundi. My patient was found to have such typical funduscopic changes after the diagnosis was suspected. The clinical feature of greatest importance is the tendency to develop constrictive pericarditis, the onset of which can be extremely subtle, as was the case here. Surgical intervention is lifesaving; no oth'~r treatment has been of demonstrated benefit. In this instance, a resident's serendipitous experience with an affected adult enabled him to save this boy's life.
Unforgettable patients Richard B, G o l d b l o o m , o c , MD, FRCPC PATIENT
1
I can tell this story in all modesty because it reflects the brilliance of one of my colleagues, rather than any of mine. Some 20 years ago I received an urgent telephone call from a colleague who was practicing as the sole pediatric consultant in a community some 200 miles from our teaching hospital. She was sending a 3-week-old boy (the firstborn in his family) by ambulance with an infusion of physiologic saline solution, and she had also given him hydrocortisone intravenously. She stated with confidence that she was fairly certain that he had congenital adrenal hyperplasia (CAH) of the salt-losing variety. Medical staff members in tertiary care institutions are sometimes criticized because they react with cautious skepticism when a physician from afar refers a patient with a rather esoteric diagnosis already attached. I asked her why she seemed so certain that this baby had CAH. She replied that, for one thing, his dehydration and poor peripheral circulation were severe, out of proportion to the brief period of diarrhea and vomiting he had had; when she had determined his electrolyte values, the serum sodium concentration was remarkably low (123 retool/L), whereas the serum potassium concentration was at the upper limit of normal. When the infant arrived at our hospital, his circulation and dehydration had improved markedly, thanks to her treatment. With the "eye of faith," plus prior knowledge of her tentative diagnosis, one might have suggested that the baby's scrotum was a shade darker than average, but the penis was normal in size. Subsequent investigation confirmed her diagnosis of CAH, and the boy did extremely well with appropriate treatment. Diagnosing CAH with 21-hydroxylase deficiency in a male infant is easy enough when the infant has an affected older sibling of either sex. Genital changes in affected males may be absent or minimal in early infancy, and a pediatric
Dr. Goldbloompracticed pediatrics in Montreal, Quebec, Canada, for several years before accepting a full-time appointment at McGill University, in Montreal. In 1967 he moved to Halifax, Nova Scotia, to become Head of the Department of Pediatrics at Dalhousie University and Physician-in-Chiefat the Izaak Walton Killam Children's Hospital. 9/32/35223
endocrinologist is not usually the first physician to see such children. My astute colleague and this child taught me a memorable lesson. The clinical clue that should put one's thinking on the right track is the observation that the dehydration and vascular collapse are unusually severe in proportion to the reported gastrointestinal losses. Firstborn affected male infants are at a great disadvantage in not having an affected older sister with clitoral hypertrophy to suggest the diagnosis. However, failure to suspect the problem early on clinical grounds in an affected firstborn infant who has the misfortune to be male could cost the child dearly. PATIENT 2 In the mid-1950s, when numerous home visits were part of every pediatrician's daily fare, I made a house call in Montreal. I had cared for a &year-old boy--I'll call him Mark--for a couple of years. He had recurrent asthma, with clear-cut clinical allergic sensitivities (dust, animals, feathers) that usually explained exacerbations of his symptoms. The family lived in a small duplex in the city. On the day of my visit, his wheezing had begun suddenly around noon. The sudden onset of wheezing and the absence of antecedent respiratory symptoms hinted strongly at an acute allergic reaction to something, but try as I might I could not identify the offending allergen. I prescribed a bronchodilatot and was about to leave. While I was saying goodbye to the parents at the door, Mark's father said, "Oh, by the way, Doc--you don't suppose this could have anything to do with his duck?" "His what?" I responded. "Come here," he said, leading me by the arm toward the kitchen door, which was shut. He opened it cautiously, exposing a small white duck waddling contentedly around the kitchen. The family had visited a local farm market that very morning and had decided to purchase the duck as a pet for this boy. Although the parents were aware that Mark was allergic to feathers (as in pillows), the well-known anatomic association between feathers and birds had somehow escaped their notice. Most pediatricians have experienced the frustration of failing to root out a child's problem despite a lengthy, searching family interview, only to have a parent turn around as he or she is leaving the office and, with the typ-
827
828
Goldbloom
ical preface "Oh, by the way, Doc," casually drop the critical morsel of information that suddenly explains everything. It has happened to me more than once, but the duck in the kitchen is indelibly etched in my memory. PATIENT
3
I first saw Jeffrey (not his real name) in 1976. He was 11 months of age and had been referred because of marked growth delay. He had been born of unrelated parents at 41 weeks of gestational age, weighing only 2380 gm. He had a triangular facies, prominent frontal region, a small, pointed chin, and a high-arched palate. Head circumference was 45 cm. Developmental level was normal. A genetic consultant and I both thought that he had several features of Russell-Silver syndrome. Bone age was approximately 6 months. An intravenous urogram showed a left pelvic kidney. Because of a grade 1/6 systolic murmur, cardiology consultation was requested. The cardiologist confirmed a high-output state. The electrocardiogram showed a normal axis with potential in the upper normal range. I followed him at regular intervals thereafter, confirming his normal intellectual development. When I saw Jeffrey at 4 years of age, I found that marked hepatomegaly (9.6 cm vertical span) and moderate splenomagaly had developed. The clinical cardiac findings again indicated a high-output state. A chest radiograph showed moderate cardiomegaly and some prominence of the pulmonary vaseulature. The electrocardiogram now showed definite left ventricular hypertrophy and some STand T-wave changes as well. Jeffrey was admitted to the hospital for further investigation. An echocardiogram showed left atrial enlargement. A liver biopsy specimen was thought to suggest possible glycogen storage disease. A muscle biopsy specimen was normal. Karyotype was 46,XY. Extensive biochemical, hematologic, and endocrine investigations (including growth hormone and somatomedin assays) were unrewarding. Jeffrey was treated with a highcalorie, elemental diet and nasogastric feedings but without much improvement. Because of the cardiovascular findings and hepatomegaly, I was becoming progressively less comfortable with
The Journal o f Pediatrics November 1992
the diagnosis of Russell-Silver syndrome. When I saw Jeffrey at age 6 years, his height was 89 cm (height age, 21/2 years) and he weighed 10.5 kg (weight age, 14 months); he was as bright and voluble as ever, and full of questions. He opened the conversation by asking me whether midgets had to marry other midgets, and whether their children would also be midgets. He was extremely slender. His voice was high and squeaky. His liver was palpable 8 cm below the right costal margin. There was an angiomatous lesion on the right leg and foot, and slight pitting edema of both legs. He was readmitted to the hospital for further investigation. During this admission an astute cardiology resident pointed out the marked similarities between Jeffrey and an adult patient he had seen recently during a rotation on an adult cardiology service. The adult patient had severe constrictive pericarditis resulting from a rare syndrome known as Mulibrey nanism (then totally unknown to me). Briefly, further investigation revealed that Jeffrey also had constrictive pericarditis, and a pericardiectomy was carried out as a matter of urgency. Thereafter, his hepatosplenomegaly disappeared and his general health (although not his growth) improved. Today, at 16 years of age, his height is 124 cm (height age, 7 years) and his weight is 20 kg (weight age, 51,5 years). Mulibrey (an acronym for "muscle, liver, brain, eyes") nanism is an extremely rare autosomal recessive form of dwarfism. Most cases have been reported from Finland, with sporadic cases elsewhere. The main clinical features include severe progressive growth retardation of prenatal onset, a triangular head, a high-arched palate, slenderness and muscular hypotonia, normal psychomotor development, and yellowish dots and dispersed pigment in the ocular fundi. My patient was found to have such typical funduscopic changes after the diagnosis was suspected. The clinical feature of greatest importance is the tendency to develop constrictive pericarditis, the onset of which can be extremely subtle, as was the case here. Surgical intervention is lifesaving; no oth'~r treatment has been of demonstrated benefit. In this instance, a resident's serendipitous experience with an affected adult enabled him to save this boy's life.